Ontology highlight
ABSTRACT:
SUBMITTER: Popa FI
PROVIDER: S-EPMC3509842 | biostudies-other | 2012
REPOSITORIES: biostudies-other
Popa Florina Ion FI Perlini Silvia S Teofoli Francesca F Degani Daniela D Funghini Silvia S La Marca Giancarlo G Rinaldo Piero P Vincenzi Monica M Antoniazzi Franco F Boner Attilio A Camilot Marta M
JIMD reports 20110906
The human HADH gene encodes the short-chain-L-3-hydroxyacyl-CoA dehydrogenase, the enzyme which catalyzes the third step of the β-oxidation of the fatty acids in the mitochondrial matrix. Loss-of-function mutations in the HADH gene lead to short-chain-L-3-hydroxyacyl-CoA dehydrogenase deficiency, an autosomal recessive genetic defect of unknown prevalence with a wide spectrum of phenotypic variability. As in other metabolic diseases, the diagnostic relevance of the biochemical evaluations, plasm ...[more]