Pyruvate Dehydrogenase Complex Deficiency Disease

An inherited metabolic disorder caused by deficient enzyme activity in the PYRUVATE DEHYDROGENASE COMPLEX, resulting in deficiency of acetyl CoA and reduced synthesis of acetylcholine. Two clinical forms are recognized: neonatal and juvenile. The neonatal form is a relatively common cause of lactic acidosis in the first weeks of life and may also feature an erythematous rash. The juvenile form presents with lactic acidosis, alopecia, intermittent ATAXIA; SEIZURES; and an erythematous rash. (From J Inherit Metab Dis 1996;19(4):452-62) Autosomal recessive and X-linked forms are caused by mutations in the genes for the three different enzyme components of this multisubunit pyruvate dehydrogenase complex. One of the mutations at Xp22.2-p22.1 in the gene for the E1 alpha component of the complex leads to LEIGH DISEASE.

Also Known As:

Ataxia with Lactic Acidosis; Ataxia with Lactic Acidosis I; Ataxia, Intermittent, with Abnormal Pyruvate Metabolism; Ataxia, Intermittent, with Pyruvate Dehydrogenase, or Decarboxylase, Deficiency; Intermittent Ataxia with Pyruvate Dehydrogenase Deficiency; Juvenile Pyruvate Dehydrogenase Complex Deficiency Disease; Neonatal Pyruvate Dehydrogenase Complex Deficiency Disease; PDH Deficiency; PDHC Deficiency; PDHC Deficiency Disease; Pyruvate Decarboxylase Deficiency; Pyruvate Dehydrogenase Complex Deficiency; Pyruvate Dehydrogenase Complex Deficiency Disease, Juvenile; Pyruvate Dehydrogenase Complex Deficiency Disease, Neonatal; Pyruvate Dehydrogenase Deficiency; Type I Ataxia with Lactic Acidosis; Deficiency, PDH; Deficiency, PDHC; Deficiency, Pyruvate Decarboxylase; Deficiency, Pyruvate Dehydrogenase; Ataxia with Lactic Acidosis, Type I; Lactic Acidosis with Ataxia, Type I

Nervous System Diseases: 14737
- Neurologic Manifestations: 7223
  - Neurobehavioral Manifestations: 1632
    - Intellectual Disability: 8222
      - X-Linked Mental Retardation: 273
        Pyruvate Dehydrogenase Complex Deficiency Disease: 239
- Central Nervous System Diseases: 4371
  - Brain Diseases: 16141
    - Metabolic Brain Diseases: 218
      - Inborn Metabolic Brain Diseases: 2
        Pyruvate Dehydrogenase Complex Deficiency Disease: 239
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Inborn Genetic Diseases: 12342
  - Inborn Errors Metabolism: 1183
    - Inborn Metabolic Brain Diseases: 2
      - Pyruvate Dehydrogenase Complex Deficiency Disease: 239
    - Inborn Errors Carbohydrate Metabolism
      - Inborn Errors Pyruvate Metabolism
        Pyruvate Dehydrogenase Complex Deficiency Disease: 239
  - Nervous System Heredodegenerative Disorders: 62
    - X-Linked Mental Retardation: 273
      - Pyruvate Dehydrogenase Complex Deficiency Disease: 239
  - X-Linked Genetic Diseases: 42
    - X-Linked Mental Retardation: 273
      - Pyruvate Dehydrogenase Complex Deficiency Disease: 239
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10634
  - Mitochondrial Diseases: 22985
    - Pyruvate Dehydrogenase Complex Deficiency Disease: 239
  - Inborn Errors Metabolism: 1183
    - Inborn Metabolic Brain Diseases: 2
      - Pyruvate Dehydrogenase Complex Deficiency Disease: 239
    - Inborn Errors Carbohydrate Metabolism
      - Inborn Errors Pyruvate Metabolism
        Pyruvate Dehydrogenase Complex Deficiency Disease: 239
  - Metabolic Brain Diseases: 218
    - Inborn Metabolic Brain Diseases: 2
      - Pyruvate Dehydrogenase Complex Deficiency Disease: 239

Steven B Pulitzer Selected Research

Steven B Pulitzer Research Topics

Disease

Drug/Important Bio-Agent (IBA)