Pyruvate dehydrogenase complex deficiency
- Synonyms
- Ataxia with lactic acidosis 1; PDH DEFICIENCY; Pyruvate Dehydrogenase Complex Deficiency Disease; Pyruvate decarboxylase deficiency; Pyruvate dehydrogenase deficiency
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
X-linked dominant inheritance (Orphanet)
Not genetically inherited (Orphanet)
Summary
Available tests
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Clinical tests (39 available)
Biochemical Genetics Tests
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