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Illness finder is a diagnostic medicine tool for educational purpose that looks up your patients' health conditions or symptoms and diagnosis and find diseases or illnesses based on chosen gender, age, risk factors, illness, signs, symptoms and prevalence. Illnessfinder is inspired by Evidence based medicine (EMB) and healthcare that aims to apply the best (most reliable) knowledge that is available at decision time. Illnessfinder aims to free up time for the therapeutic dialogue and ensure quality at the evidence based practice, uniting proven medical findings and clinical evidence with systematised data technology.
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| Pyruvate Dehydrogenase Complex Deficiency Disease | Legal notice |
Other terms
PDHC Deficiency Disease,Deficiency Disease, PDHC,Deficiency Diseases, PDHC,PDHC Deficiency Diseases,Juvenile Pyruvate Dehydrogenase Complex Deficiency Disease,Pyruvate Dehydrogenase Complex Deficiency Disease, Juvenile,Pyruvate Dehydrogenase Complex Deficiency Disease, Neonatal,Neonatal Pyruvate Dehydrogenase Complex Deficiency Disease,Ataxia with Lactic Acidosis, Type I,Type I Ataxia with Lactic Acidosis,Lactic Acidosis with Ataxia, Type I
Description
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.
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- Brain Diseases, Metabolic, Inborn
- Mental Retardation, X-Linked
- Mental Retardation, X-Linked
- Mental Retardation, X-Linked
- Brain Diseases, Metabolic, Inborn
- Pyruvate Metabolism, Inborn Errors
- Brain Diseases, Metabolic, Inborn
- Pyruvate Metabolism, Inborn Errors
- Mitochondrial Diseases
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