Disorders of carbohydrate metabolism
Glycogen storage disease
G6PD deficiency
Disorders of amino acid metabolism
phenylketonuria
tyrosinemia
maple syrup urine disease
glutaric acidemia type 1
Urea Cycle Disorder or Urea Cycle Defects
Carbamoyl phosphate synthetase I deficiency
Citrullinemia type II (citrin deficiency)
Disorders of organic acid metabolism (organic acidurias)
alkaptonuria
Combined malonic and methylmalonic aciduria (CMAMMA)
2-hydroxyglutaric acidurias
Disorders of fatty acid oxidation and mitochondrial metabolism
Medium-chain acyl-coenzyme A dehydrogenase deficiency (MCADD)
Disorders of porphyrin metabolism
acute intermittent porphyria
Disorders of purine or pyrimidine metabolism
Lesch–Nyhan syndrome
AMPD1 Deficiency (MADD)
Disorders of steroid metabolism
lipoid congenital adrenal hyperplasia
congenital adrenal hyperplasia
Disorders of mitochondrial function
Kearns–Sayre syndrome
Disorders of peroxisomal function
Zellweger syndrome
Lysosomal storage disorders
Gaucher’s disease
Niemann–Pick disease