Newborn Screening Disorder Fact Sheets

Below are brief descriptions of the disorders screened for in the Northwest Regional Newborn Screening Program. Click on the link to view the disorder Fact Sheet.

Endocrine Disorders

• Congenital Hypothyroidism
• Congenital Adrenal Hyperplasia

Hemoglobin Disorders

(Fact sheets under construction) 

Metabolic Disorders

• Biotinidase Deficiency 
• Galactosemia
  • Galactosemia Classical
  • Galactosemia Variant

Amino Acid Disorders

• Phenylketonuria
• Homocystinuria
• Tyrosinemia
  • Tyrosinemia, Type 1
  • Tyrosinemia, Type 2
• Arginase Deficiency
• Argininosuccinate lyase deficiency (ASA)
• Citrullinemia
  • Classic Citrullinemia
  • Citrullinemia Type II

Organic Acid Disorders

• Beta-Ketothiolase deficiency
• Glutaric aciduria, Type I (glutaryl-CoA dehydrogenase deficiency)
• HMG-CoA lyase deficiency (3-hydroxy-3-methylglutaryl-CoA lyase deficiency)
• Isobutyryl CoA dehydrogenase deficiency
• Isovaleryl-CoA dehydrogenase deficiency (Isovaleric acidemia)
• Malonic aciduria
• Maple Syrup Urine Disease
• Methylmalonic acidemia (MMA)
  • Methylmalonic aciduria, vitamin B-12 responsive
  • Methylmalonic aciduria, vitamin B-12 nonresponsive
  • Vitamin B12 metabolic defect with methylmalonicacidemia and homocystinuria
• Multiple carboxylase deficiency
• Propionic acidemia (PA)
• 2-Methyl-3-hydroxybutyryl CoA dehydrogenase deficiency
• 2-Methylbutyryl CoA dehydrogenase deficiency
• 3-methylcrotonyl-CoA carboxylase deficiency
• 3-methylglutaconyl-CoA hydratase deficiency
  • 3-methylglutaconyl-CoA aciduria TYPE I
  • 3-methylglutaconyl-CoA aciduria TYPE II
  • 3-methylglutaconyl-CoA aciduria TYPEIII
  • 3-methylglutaconyl-CoA aciduria TYPE IV

Fatty Acid Chain Disorders

• Carnitine uptake/transporter defects
  • Carnitine-acylcarnitine translocase deficiency
  • Carnitine transporter defect
  • Carnitine palmitoyl transferase I deficiency (CPT I)
  • Carnitine palmitoyl transferase II deficiency (CPT II)
• Glutaric aciduria, Type II (multiple acyl-CoA dehydrogenase deficiency (MADD))
• Very long chain acyl-CoA dehydrogenase deficiency (VLCADD)
• Long chain L-3 hydroxyacyl-CoA dehydrogenase deficiency (LCHADD)
• Medium chain acyl-CoA dehydrogenase deficiency (MCADD)
• Short chain acyl-CoA dehydrogenase deficiency (SCADD)

Cystic Fibrosis

• Cystic Fibrosis   

Disclaimer Statement

The information on the Northwest Regional Newborn Screening Program website is offered for general informational and educational purposes only. It is not offered as, and does not constitute, medical advice. In no way are any of the materials presented meant to be a substitute for professional medical care or attention by a qualified practitioner, nor would they be construed as such. Contact your physician if there are any concerns or questions.