MeSH Browser

MeSH Supplementary: VLCAD deficiency
Unique ID: C536353
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C536353
Entry Term(s): Acadvl; Acyl-CoA Dehydrogenase, Very Long-Chain, Deficiency of; Acyl-Coa Dehydrogenase Very Long Chain Deficiency; Pearson Marrow-Pancreas Syndrome; Pearson syndrome; Pearson's marrow-pancreas syndrome; Sideroblastic anemia with marrow cell vacuolization and exocrine pancreatic dysfunction; Very Long-Chain Acyl Coenzyme A Dehydrogenase Deficiency; Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency; Very long-chain acyl-CoA dehydrogenase deficiency; Vlcad-C; Vlcad-H
Registry Number: 0
Heading Mapped to: *Congenital Bone Marrow Failure Syndromes; *Lipid Metabolism, Inborn Errors; *Muscular Diseases; *Mitochondrial Diseases
Frequency: 163
Note: Three forms of this disorder occur: a severe early-onset form with CARDIOMYOPATHY and high mortality; an intermediate form with childhood onset and hypoketotic hypoglycemia and more favorable outcome; and an adult-onset form characterized by MYOPATHY; RHABDOMYOLYSIS, and MYOGLOBINURIA after exercise or fasting. Germline mutations in the ACADS gene have been identified. OMIM: 201470
Date of Entry: 2010/08/25
Revision Date: 2020/02/28

VLCAD deficiency MeSH Supplementary Concept Data 2024