Metabolic Disorders

Related topics on Genetics Home Reference:

• 21-hydroxylase deficiency
• 2-hydroxyglutaric aciduria
• 2-methylbutyryl-coenzyme A dehydrogenase deficiency
• 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency
• 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
• 3-methylcrotonyl-coenzyme A carboxylase deficiency
• 3-methylglutaconic aciduria
• abetalipoproteinemia
• adenosine deaminase deficiency
• alkaptonuria
• alpha-mannosidosis
• arginase deficiency
• argininosuccinic aciduria
• aromatic l-amino acid decarboxylase deficiency
• aspartylglucosaminuria
• ataxia-telangiectasia
• beta-ketothiolase deficiency
• beta-mannosidosis
• biotinidase deficiency
• Bloom syndrome
• carbamoyl phosphate synthetase I deficiency
• carnitine-acylcarnitine translocase deficiency
• carnitine palmitoyltransferase 2 deficiency
• carnitine palmitoyltransferase I deficiency
• cerebrotendinous xanthomatosis
• Chanarin-Dorfman syndrome
• cholesteryl ester storage disease
• chylomicron retention disease
• citrullinemia
• Cockayne syndrome
• congenital sucrase-isomaltase deficiency
• cystinosis
• cystinuria
• Dubin-Johnson syndrome
• ethylmalonic encephalopathy
• Fabry disease
• familial lipoprotein lipase deficiency
• Farber lipogranulomatosis
• Friedreich ataxia
• fucosidosis
• fumarase deficiency
• galactosemia
• galactosialidosis
• Gaucher disease
• glucose-6-phosphate dehydrogenase deficiency
• glucose-galactose malabsorption
• GLUT1 deficiency syndrome
• glutaric acidemia type I
• glutaric acidemia type II
• glutathione synthetase deficiency
• glycine encephalopathy
• GM2-gangliosidosis, AB variant
• guanidinoacetate methyltransferase deficiency
• hemochromatosis
• holocarboxylase synthetase deficiency
• homocystinuria
• Hutchinson-Gilford progeria syndrome
• hypercholesterolemia
• hyperkalemic periodic paralysis
• hypermethioninemia
• hyperprolinemia
• hypokalemic periodic paralysis
• hypophosphatasia
• isobutyryl-coenzyme A dehydrogenase deficiency
• isovaleric acidemia
• Krabbe disease
• Leber hereditary optic neuropathy
• Lesch-Nyhan syndrome
• Li-Fraumeni syndrome
• long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
• Lowe syndrome
• Lynch syndrome
• lysinuric protein intolerance
• malonyl-coenzyme A decarboxylase deficiency
• maple syrup urine disease
• medium-chain acyl-coenzyme A dehydrogenase deficiency
• Menkes syndrome
• metachromatic leukodystrophy
• methylmalonic acidemia
• mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes
• mitochondrial neurogastrointestinal encephalopathy disease
• mitochondrial trifunctional protein deficiency
• mucopolysaccharidosis type I
• mucopolysaccharidosis type II
• N-acetylglutamate synthase deficiency
• neuropathy, ataxia, and retinitis pigmentosa
• neutral lipid storage disease with myopathy
• Niemann-Pick disease
• ocular albinism
• oculocutaneous albinism
• ornithine transcarbamylase deficiency
• ornithine translocase deficiency
• phenylketonuria
• Pompe disease
• porphyria
• primary carnitine deficiency
• primary hyperoxaluria
• propionic acidemia
• pyruvate carboxylase deficiency
• Rothmund-Thomson Syndrome
• Sandhoff disease
• short-chain acyl-coenzyme A dehydrogenase deficiency
• sialic acid storage disease
• sialuria
• Smith-Lemli-Opitz syndrome
• succinic semialdehyde dehydrogenase deficiency
• Tangier disease
• Tay-Sachs disease
• tetrahydrobiopterin deficiency
• transthyretin amyloidosis
• trimethylaminuria
• tyrosinemia
• very long-chain acyl-coenzyme A dehydrogenase deficiency
• Werner syndrome
• Wilson disease
• Wolman disease
• X-linked adrenoleukodystrophy
• X-linked severe combined immunodeficiency

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