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