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Screened Disorders

Screened Disorders ​

Inborn Errors of Amino Acids Metabolism

Phenulketonuria banner
Maple syrup urine disease banner
Classical Homocystinuria banner

 Inborn Errors of Organic Acids Metabolism

HMG CoA-Iyase deficiency banner
Methylmalonic Acidemia banner
Propionic Acidemia banner
B-ketothiolase deficiency banner
Glutaric Acidemia I banner
3-MCC deficiency banner

 Urea Cycle Defects

Argininosuccinic Aciduria banner
Citrullinemia banner

 Fatty Acid Oxidation Defects

MCAD deficiency banner
VLCAD deficiency banner

 Inborn Errors of Carbohydrate

Galactosemia banner

 Vitamin Responsive Disorder

Biotinidase Deficiency banner

 Endocrine Disorders (2 disorders)

Congenital Hypothyroidism banner
Congenital Adrenal Hyperplasia banner


Last Modified

12/26/2020 5:03 PM