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