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: 7
- Hematologic Diseases: 3445
  - Bone Marrow Diseases: 139
    - Bone Marrow Failure Disorders: 1111
      - Congenital Bone Marrow Failure Syndromes: 115
        VLCAD deficiency: 430
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Inborn Genetic Diseases: 12342
  - Inborn Errors Metabolism: 1183
    - Inborn Errors Lipid Metabolism
      - VLCAD deficiency: 430
- Diseases Newborn Infant: 271
  - Congenital Bone Marrow Failure Syndromes: 115
    - VLCAD deficiency: 430
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10634
  - Mitochondrial Diseases: 22985
    - VLCAD deficiency: 430
  - Inborn Errors Metabolism: 1183
    - Inborn Errors Lipid Metabolism
      - VLCAD deficiency: 430
  - Lipid Metabolism Disorders: 987
    - Inborn Errors Lipid Metabolism
      - VLCAD deficiency: 430
Musculoskeletal Diseases: 751
- Muscular Diseases: 10368
  - VLCAD deficiency: 430
Nervous System Diseases: 14737
- Neuromuscular Diseases: 2048
  - Muscular Diseases: 10368
    - VLCAD deficiency: 430

Sara Freitas Oliveira Selected Research

Sara Freitas Oliveira Research Topics

Disease

Drug/Important Bio-Agent (IBA)