Homocystinuria
Adult/classical refsum disease
Zellweger spectrum
Kearns Sayres/Pearson/PEO spectrum
X-linked adrenoleukodystrophy
isovaleric acidemia
methylmalonic acidemia
Tyrosinemia type I
Ornithine transcarbamylase (OTC) deficiency
glutaric acidemia type I
Maple syrup urine disease (MSUD)
propionic acidemia
Organic acidemias
Citrullinemia type I
Arginase deficiency
Amino acidemias
Urea cycle disorders
Rhizomelic chondrodysplasia punctata type I
MELAS
Phenylketonuria (PKU)
Argininosuccinate lyase deficiency
