VLCAD deficiency

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

Also Known As:

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

Hemic and Lymphatic Diseases: 6
- Hematologic Diseases: 3366
  - Bone Marrow Diseases: 135
    - Bone Marrow Failure Disorders: 1082
      - Congenital Bone Marrow Failure Syndromes: 107
        VLCAD deficiency: 421
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Inborn Errors Metabolism: 1162
    - Inborn Errors Lipid Metabolism
      - VLCAD deficiency: 421
- Diseases Newborn Infant: 266
  - Congenital Bone Marrow Failure Syndromes: 107
    - VLCAD deficiency: 421
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - Mitochondrial Diseases: 21919
    - VLCAD deficiency: 421
  - Inborn Errors Metabolism: 1162
    - Inborn Errors Lipid Metabolism
      - VLCAD deficiency: 421
  - Lipid Metabolism Disorders: 898
    - Inborn Errors Lipid Metabolism
      - VLCAD deficiency: 421
Musculoskeletal Diseases: 719
- Muscular Diseases: 10128
  - VLCAD deficiency: 421
Nervous System Diseases: 14178
- Neuromuscular Diseases: 2005
  - Muscular Diseases: 10128
    - VLCAD deficiency: 421

Marta García Fernández de Villalta Selected Research

Marta García Fernández de Villalta Research Topics

Disease

Drug/Important Bio-Agent (IBA)

Therapy/Procedure