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VLCAD deficiency MeSH Supplementary Concept Data 2024


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 Preferred
Pearson syndrome Related
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