VLCAD deficiency [Supplementary Concept]

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 introduced: August 25, 2010

MeSH Unique ID: C536353

Heading Mapped to:

• Congenital Bone Marrow Failure Syndromes
• Lipid Metabolism, Inborn Errors
• Muscular Diseases
• Mitochondrial Diseases

Entry Terms:

• Acyl-CoA Dehydrogenase, Very Long-Chain, Deficiency of
• Acadvl
• Vlcad-H
• Very Long-Chain Acyl Coenzyme A Dehydrogenase Deficiency
• Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency
• Vlcad-C
• Very long-chain acyl-CoA dehydrogenase deficiency
• Acyl-Coa Dehydrogenase Very Long Chain Deficiency
• Pearson syndrome
• Sideroblastic anemia with marrow cell vacuolization and exocrine pancreatic dysfunction
• Pearson Marrow-Pancreas Syndrome
• Pearson's marrow-pancreas syndrome