The most common clinical observations of patients suffering from<unk>  include hypotonia, facial and skull dysmorphism, neonatal seizures, and neuronal demyelination. High levels of branched fatty acids, such as pristinic acid, bile acid intermediates, and other D-BP substrates are seen to exist. Reduced pristinic acid β-oxidation is a common indicator of D-BP deficiency. D-BP can be distinguished from Zellweger Syndrome by normal plasmalogen synthesis. Recent studies in D-BP knockout mice show compensatory upregulation of other peroxisomal enzymes in absence of D-BP such as palmitoyl-CoA oxidase, peroxisomal thiolase, and branched chain acyl-CoA oxidase.
D-bifunctional protein deficiency
Glutaminase deficiency
Biotinidase deficiency
Aminoacylase 1 deficiency
Holocarboxylase synthetase deficiency
Ornithine aminotransferase deficiency
Arginine:glycine amidinotransferase deficiency
Multiple carboxylase deficiency