Metabolism is the process your body uses to get or make energy from the food you eat. Food is made up of proteins, carbohydrates and fats. Chemicals in your digestive system break the food parts down into sugars and acids, your body's fuel. Your body can use this fuel right away, or it can store the energy in your body tissues, such as your liver, muscles and body fat.
A metabolic disorder occurs when abnormal chemical reactions in your body disrupt this process. When this happens, you might have too much of some substances or too little of other ones that you need to stay healthy.
You can develop a metabolic disorder when some organs, such as your liver or pancreas, become diseased or do not function normally. Diabetes is an example.
- Hereditary Metabolic Disorders(Merck & Co., Inc.) - http://www.merck.com/mmhe/sec23/ch282/ch282a.html
- Acidosis and Alkalosis(American Association for Clinical Chemistry) - http://labtestsonline.org/understanding/conditions/acidosis.html
- Methylmalonic Acid(American Association for Clinical Chemistry) - http://www.labtestsonline.org/understanding/analytes/mma/test.html
- Muscle Biopsy for Diagnosis of Metabolic Diseases(Cleveland Clinic Foundation) - http://my.clevelandclinic.org/disorders/metabolic_diseases/hic_muscle_biopsy_for_diagnosis_of_metabolic_diseases.aspx
- Skin Biopsy for Diagnosis of Metabolic Diseases(Cleveland Clinic Foundation) - http://my.clevelandclinic.org/disorders/metabolic_diseases/hic_skin_biopsy_for_diagnosis_of_metabolic_diseases.aspx
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MedlinePlus: Newborn Screening
(National Library of Medicine) - http://www.nlm.nih.gov/medlineplus/newbornscreening.html
Also available in Spanish http://www.nlm.nih.gov/medlineplus/spanish/newbornscreening.html
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Acid Lipase Disease(National Institute of Neurological Disorders and Stroke) - Short Summary - http://www.ninds.nih.gov/disorders/acid_lipase/acid_lipase.htm
- Amyloidosis(Mayo Foundation for Medical Education and Research) - http://www.mayoclinic.com/print/amyloidosis/DS00431/DSECTION=all&METHOD=print
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Barth Syndrome(National Institute of Neurological Disorders and Stroke) - http://www.ninds.nih.gov/disorders/barth/barth.htm
- Biotinidase Deficiency (BD)(Save Babies Through Screening Foundation) - http://www.savebabies.org/diseasedescriptions/biotinidase.php
- Carnitine Palitoyl Transferase Deficiency Type II (CPT-II)(Save Babies Through Screening Foundation) - http://www.savebabies.org/diseasedescriptions/cptII.php
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Central Pontine Myelinolysis(National Institute of Neurological Disorders and Stroke) - Short Summary - http://www.ninds.nih.gov/disorders/central_pontine/central_pontine_myelinolysis.htm
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Facts about Metabolic Diseases of Muscle(Muscular Dystrophy Association) - http://www.mda.org/publications/fa-metab-qa.html
Also available in Spanish http://www.mda.org/espanol/esp-fa-metab.html
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Farber’s Disease(National Institute of Neurological Disorders and Stroke) - Short Summary - http://www.ninds.nih.gov/disorders/Farbers/farbers.htm
- G6PD Deficiency (Glucose-6-Phosphate Dehydrogenase)(Nemours Foundation) - http://kidshealth.org/parent/general/aches/g6pd.html
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Gangliosidoses(National Institute of Neurological Disorders and Stroke) - Short Summary - http://www.ninds.nih.gov/disorders/gangliosidoses/Gangliosidoses.htm
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Learning about Trimethylaminuria(National Human Genome Research Institute) - http://www.genome.gov/11508983
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Lesch-Nyhan Syndrome(National Institute of Neurological Disorders and Stroke) - Short Summary - http://www.ninds.nih.gov/disorders/lesch_nyhan/lesch_nyhan.htm
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Lipid Storage Diseases(National Institute of Neurological Disorders and Stroke) - http://www.ninds.nih.gov/disorders/lipid_storage_diseases/detail_lipid_storage_diseases.htm
Also available in Spanish http://espanol.ninds.nih.gov/trastornos/enfermedades_por_almacenamiento_de_lipidos.htm
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Lipid Storage Diseases(National Institute of Neurological Disorders and Stroke) - Short Summary - http://www.ninds.nih.gov/disorders/lipid_storage_diseases/lipid_storage_diseases.htm
- Metabolic Myopathies(American College of Rheumatology) - http://www.rheumatology.org/public/factsheets/diseases_and_conditions/metabolicmyopathies.asp?aud=pat
- Methylmalonic Acidemia (MUT)(Save Babies Through Screening Foundation) - http://www.savebabies.org/diseasedescriptions/methylmalonicaciduria.php
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Mitochondrial Myopathies(Muscular Dystrophy Association) - http://www.mda.org/publications/mitochondrial_myopathies.html
Also available in Spanish http://www.mda.org/espanol/esp-fa-mito.html
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Mitochondrial Myopathies(National Institute of Neurological Disorders and Stroke) - Short Summary - http://www.ninds.nih.gov/disorders/mitochondrial_myopathy/mitochondrial_myopathy.htm
- MPS (Mucopolysaccharidoses) and Related Diseases(National MPS Society) - http://www.mpssociety.org/content/4002/MPS__Related_Diseases/
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Mucolipidoses(National Institute of Neurological Disorders and Stroke) - http://www.ninds.nih.gov/disorders/mucolipidoses/detail_mucolipidoses.htm
Also available in Spanish http://espanol.ninds.nih.gov/trastornos/mucolipidoses.htm
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Mucolipidoses(National Institute of Neurological Disorders and Stroke) - Short Summary - http://www.ninds.nih.gov/disorders/mucolipidoses/mucolipidoses.htm
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Mucopolysaccharidoses(National Institute of Neurological Disorders and Stroke) - http://www.ninds.nih.gov/disorders/mucopolysaccharidoses/detail_mucopolysaccharidoses.htm
Also available in Spanish http://espanol.ninds.nih.gov/trastornos/las_mucopolisacaridosis.htm
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Mucopolysaccharidoses(National Institute of Neurological Disorders and Stroke) - Short Summary - http://www.ninds.nih.gov/disorders/mucopolysaccharidoses/mucopolysaccharidoses.htm
- Multiple CoA Carboxylase Deficiency (MCCD)(Save Babies Through Screening Foundation) - http://www.savebabies.org/diseasedescriptions/multiplecoacarboxylase.php
- Nonketotic Hyperglycinemia (NKH)(Save Babies Through Screening Foundation) - http://www.savebabies.org/diseasedescriptions/nkh.php
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Pompe Disease(National Institute of Neurological Disorders and Stroke) - http://www.ninds.nih.gov/disorders/pompe/pompe.htm
- Propionic Acidemia (PROP)(Save Babies Through Screening Foundation) - http://www.savebabies.org/diseasedescriptions/pa.php
- Type I Glycogen Storage Disease(American Liver Foundation) - http://www.liverfoundation.org/education/info/gsdi/
- What Is a Urea Cycle Disorder?(National Urea Cycle Disorders Foundation) - http://www.nucdf.org/ucd.htm
- What Is Hyperoxaluria and Oxalosis?(Oxalosis and Hyperoxaluria Foundation) - http://www.ohf.org/about_disease.html
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Metabolism(Nemours Foundation) - http://kidshealth.org/parent/general/body_basics/metabolism.html
Also available in Spanish http://kidshealth.org/parent/en_espanol/general/metabolism_esp.html
- Newborn Screening Packets for Parents(Save Babies Through Screening Foundation) - http://www.savebabies.org/NBS/packetsforparents.php
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ClinicalTrials.gov: Metabolic Diseases(National Institutes of Health) - http://clinicaltrials.gov/search/open/condition=%22Metabolic+Diseases%22
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ClinicalTrials.gov: Mucolipidoses(National Institutes of Health) - http://clinicaltrials.gov/search/open/condition=%22Mucolipidoses%22
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ClinicalTrials.gov: Mucopolysaccharidoses(National Institutes of Health) - http://clinicaltrials.gov/search/open/condition=%22Mucopolysaccharidoses%22
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Genetics Home Reference: 2-hydroxyglutaric aciduria(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=2hydroxyglutaricaciduria
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Genetics Home Reference: 2-methylbutyryl-coenzyme A dehydrogenase deficiency(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=2methylbutyrylcoenzymeadehydrogenasedeficiency
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Genetics Home Reference: 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=3hydroxy3methylglutarylcoenzymealyasedeficiency
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Genetics Home Reference: 3-hydroxyacyl-coenzyme A dehydrogenase deficiency(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=3hydroxyacylcoenzymeadehydrogenasedeficiency
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Genetics Home Reference: 3-methylcrotonyl-coenzyme A carboxylase deficiency(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=3methylcrotonylcoenzymeacarboxylasedeficiency
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Genetics Home Reference: 3-methylglutaconic aciduria(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=3methylglutaconicaciduria
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Genetics Home Reference: Abetalipoproteinemia(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=abetalipoproteinemia
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Genetics Home Reference: Adenosine deaminase deficiency(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=adenosinedeaminasedeficiency
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Genetics Home Reference: Alkaptonuria(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=alkaptonuria
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Genetics Home Reference: Alpha-mannosidosis(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=alphamannosidosis
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Genetics Home Reference: Arginase deficiency(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=arginasedeficiency
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Genetics Home Reference: Argininosuccinic aciduria(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=argininosuccinicaciduria
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Genetics Home Reference: Aspartylglucosaminuria(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=aspartylglucosaminuria
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Genetics Home Reference: Beta-ketothiolase deficiency(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=betaketothiolasedeficiency
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Genetics Home Reference: Beta-mannosidosis(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=betamannosidosis
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Genetics Home Reference: Biotinidase deficiency(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=biotinidasedeficiency
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Genetics Home Reference: Carbamoyl phosphate synthetase I deficiency(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=carbamoylphosphatesynthetaseideficiency
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Genetics Home Reference: Carnitine palmitoyltransferase 2 deficiency(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=carnitinepalmitoyltransferase2deficiency
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Genetics Home Reference: Carnitine palmitoyltransferase I deficiency(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=carnitinepalmitoyltransferaseideficiency
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Genetics Home Reference: Carnitine-acylcarnitine translocase deficiency(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=carnitineacylcarnitinetranslocasedeficiency
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Genetics Home Reference: Cerebrotendinous xanthomatosis(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=cerebrotendinousxanthomatosis
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Genetics Home Reference: Chanarin-Dorfman syndrome(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=chanarindorfmansyndrome
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Genetics Home Reference: Chylomicron retention disease(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=chylomicronretentiondisease
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Genetics Home Reference: Citrullinemia(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=citrullinemia
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Genetics Home Reference: Dubin-Johnson syndrome(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=dubinjohnsonsyndrome
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Genetics Home Reference: Ethylmalonic encephalopathy(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=ethylmalonicencephalopathy
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Genetics Home Reference: Fabry disease(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=fabrydisease
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Genetics Home Reference: Familial lipoprotein lipase deficiency(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=familiallipoproteinlipasedeficiency
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Genetics Home Reference: Farber lipogranulomatosis(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=farberlipogranulomatosis
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Genetics Home Reference: Fucosidosis(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=fucosidosis
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Genetics Home Reference: Fumarase deficiency(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=fumarasedeficiency
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Genetics Home Reference: Galactosemia(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=galactosemia
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Genetics Home Reference: Galactosialidosis(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=galactosialidosis
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Genetics Home Reference: Glucose-6-phosphate dehydrogenase deficiency(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=glucose6phosphatedehydrogenasedeficiency
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Genetics Home Reference: Glucose-galactose malabsorption(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=glucosegalactosemalabsorption
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Genetics Home Reference: GLUT1 deficiency syndrome(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=glut1deficiencysyndrome
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Genetics Home Reference: Glutaric acidemia type I(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=glutaricacidemiatypei
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Genetics Home Reference: Glutaric acidemia type II(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=glutaricacidemiatypeii
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Genetics Home Reference: Glutathione synthetase deficiency(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=glutathionesynthetasedeficiency
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Genetics Home Reference: Glycine encephalopathy(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=glycineencephalopathy
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Genetics Home Reference: Guanidinoacetate methyltransferase deficiency(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=guanidinoacetatemethyltransferasedeficiency
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Genetics Home Reference: Holocarboxylase synthetase deficiency(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=holocarboxylasesynthetasedeficiency
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Genetics Home Reference: Homocystinuria(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=homocystinuria
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Genetics Home Reference: Hutchinson-Gilford progeria syndrome(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=hutchinsongilfordprogeriasyndrome
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Genetics Home Reference: Hypercholesterolemia(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=hypercholesterolemia
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Genetics Home Reference: Hypermethioninemia(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=hypermethioninemia
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Genetics Home Reference: Hyperprolinemia(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=hyperprolinemia
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Genetics Home Reference: Hypophosphatasia(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=hypophosphatasia
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Genetics Home Reference: Isobutyryl-coenzyme A dehydrogenase deficiency(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=isobutyrylcoenzymeadehydrogenasedeficiency
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Genetics Home Reference: Isovaleric acidemia(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=isovalericacidemia
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Genetics Home Reference: Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=longchain3hydroxyacylcoenzymeadehydrogenasedeficiency
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Genetics Home Reference: Lysinuric protein intolerance(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=lysinuricproteinintolerance
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Genetics Home Reference: Malonyl-coenzyme A decarboxylase deficiency(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=malonylcoenzymeadecarboxylasedeficiency
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Genetics Home Reference: Maple syrup urine disease(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=maplesyrupurinedisease
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Genetics Home Reference: Medium-chain acyl-coenzyme A dehydrogenase deficiency(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=mediumchainacylcoenzymeadehydrogenasedeficiency
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Genetics Home Reference: Methylmalonic acidemia(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=methylmalonicacidemia
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Genetics Home Reference: Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=mitochondrialencephalomyopathylacticacidosisandstrokelikeepisodes
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Genetics Home Reference: Mitochondrial neurogastrointestinal encephalopathy disease(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=mitochondrialneurogastrointestinalencephalopathydisease
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Genetics Home Reference: Mitochondrial trifunctional protein deficiency(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=mitochondrialtrifunctionalproteindeficiency
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Genetics Home Reference: Mucopolysaccharidosis type I(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=mucopolysaccharidosistypei
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Genetics Home Reference: Mucopolysaccharidosis type II(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=mucopolysaccharidosistypeii
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Genetics Home Reference: N-acetylglutamate synthase deficiency(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=nacetylglutamatesynthasedeficiency
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Genetics Home Reference: Neuropathy, ataxia, and retinitis pigmentosa(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=neuropathyataxiaandretinitispigmentosa
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Genetics Home Reference: Neutral lipid storage disease with myopathy(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=neutrallipidstoragediseasewithmyopathy
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Genetics Home Reference: Niemann-Pick disease(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=niemannpickdisease
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Genetics Home Reference: Ornithine transcarbamylase deficiency(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=ornithinetranscarbamylasedeficiency
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Genetics Home Reference: Ornithine translocase deficiency(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=ornithinetranslocasedeficiency
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Genetics Home Reference: Pompe disease(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=pompedisease
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Genetics Home Reference: Primary carnitine deficiency(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=primarycarnitinedeficiency
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Genetics Home Reference: Primary hyperoxaluria(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=primaryhyperoxaluria
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Genetics Home Reference: Propionic acidemia(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=propionicacidemia
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Genetics Home Reference: Pyruvate carboxylase deficiency(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=pyruvatecarboxylasedeficiency
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Genetics Home Reference: Short-chain acyl-coenzyme A dehydrogenase deficiency(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=shortchainacylcoenzymeadehydrogenasedeficiency
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Genetics Home Reference: Sialic acid storage disease(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=sialicacidstoragedisease
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Genetics Home Reference: Sialuria(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=sialuria
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Genetics Home Reference: Trimethylaminuria(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=trimethylaminuria
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Genetics Home Reference: Tyrosinemia(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=tyrosinemia
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Genetics Home Reference: Very long-chain acyl-coenzyme A dehydrogenase deficiency(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=verylongchainacylcoenzymeadehydrogenasedeficiency
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Birth Defects and Developmental Disabilities(National Institute of Child Health and Human Development) - http://www.nichd.nih.gov/womenshealth/research/pregbirth/birthdefects.cfm
References and abstracts from MEDLINE/PubMed (National Library of Medicine)
- Article: Akhenaten and the strange physiques of Egypt's 18th dynasty. - http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=pubmed&dopt=AbstractPlus&list_uids=19380856&tool=MedlinePlus
- Article: Highly selective leptomeningeal amyloidosis with transthyretin variant Ala25Thr. - http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=pubmed&dopt=AbstractPlus&list_uids=19365058&tool=MedlinePlus
- Article: Improved metabolic correction in patients with lysosomal storage disease treated... - http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=pubmed&dopt=AbstractPlus&list_uids=19324223&tool=MedlinePlus
- Metabolic Disorders -- see more articles - http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=search&db=pubmed&term=metabolism,inborn+errors[majr]+NOT+(phenylketonurias[mh]+OR+hyperbilirubinemia[mh]+OR+lactose+intolerance[mh]+OR+lipid+metabolism,inborn+errors[mh]+OR+hemochromatosis[mh]+OR+porphyrias[mh]+OR+gout[mh])+AND+english[la]+AND+humans[mh]+AND+(review[pt]+OR+guideline[pt]+OR+clinical+trial[pt]+OR+jsubsetk[text]+OR+patient+education+handout[pt]+OR+jsubsetaim[text]+OR+jsubsetn[text])+NOT+(letter[pt]+OR+editorial[pt])&doptcmdl=summary&cmd_current=Limits&pmfilter_EDatLimit=last+1+Year&tool=MedlinePlus
- Glossary(United Mitochondrial Disease Foundation) - http://www.umdf.org/site/c.dnJEKLNqFoG/b.3042183/k.D5AC/Glossary.htm
- MPS (Mucopolysaccharidoses) Glossary(National MPS Society) - http://www.mpssociety.org/content/4065/Glossary/
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Directory of Endocrine and Metabolic Diseases Organizations(National Institute of Diabetes and Digestive and Kidney Diseases) - http://www.endocrine.niddk.nih.gov/resources/organizations.htm
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Genetic and Rare Diseases Information Center(Office of Rare Diseases) - http://rarediseases.info.nih.gov/GARD/Default.aspx?PageID=4
- Laboratory Directory-GeneReviews(University of Washington) - http://www.genetests.org/servlet/access?id=8888891&key=xW0l31Z2a4hTc&fcn=y&fw=XPF9&filename=/labsearch/searchdztest.html
- US Clinic Directory Search(University of Washington) - http://www.genetests.org/servlet/access?id=8888891&key=yLoqrsrCVms-M&fcn=y&fw=ZDht&filename=/clinicsearch/searchclinic.html
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National Institute of Diabetes and Digestive and Kidney Diseases - http://www.niddk.nih.gov/
- National MPS Society (Mucopolysaccharidoses)(National MPS Society) - http://www.mpssociety.org/
- Oxalosis and Hyperoxaluria Foundation - http://www.ohf.org/
- Save Babies through Screening Foundation - http://www.savebabies.org/
- United Mitochondrial Disease Foundation - http://www.umdf.org/
- Hyponatremia (Low Blood Sodium) in Older Adults(Mayo Foundation for Medical Education and Research) - http://www.mayoclinic.com/print/low-blood-sodium/AN00621/METHOD=print
- Celiac Disease - http://www.nlm.nih.gov/medlineplus/celiacdisease.html
- Gaucher's Disease - http://www.nlm.nih.gov/medlineplus/gauchersdisease.html
- Genetic Brain Disorders - http://www.nlm.nih.gov/medlineplus/geneticbraindisorders.html
- Hemochromatosis - http://www.nlm.nih.gov/medlineplus/hemochromatosis.html
- Phenylketonuria - http://www.nlm.nih.gov/medlineplus/phenylketonuria.html
- Porphyria - http://www.nlm.nih.gov/medlineplus/porphyria.html
- Rickets - http://www.nlm.nih.gov/medlineplus/rickets.html
- Wilson Disease - http://www.nlm.nih.gov/medlineplus/wilsondisease.html
- Genetics/Birth Defects - http://www.nlm.nih.gov/medlineplus/geneticsbirthdefects.html
- Metabolic Problems - http://www.nlm.nih.gov/medlineplus/metabolicproblems.html
The primary NIH organization for research on Metabolic Disorders is the National Institute of Diabetes and Digestive and Kidney Diseases - http://www.niddk.nih.gov/