pyruvate dehydrogenase kinase 3
OMIM: 300906, Gene2Phenotype
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PDK3 in Undiagnosed metabolic disorders
Level 3: Specific metabolic abnormalities
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review | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
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Phenotypes
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PDK3 in Likely inborn error of metabolism - targeted testing not possible
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review | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
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Phenotypes
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PDK3 in Possible mitochondrial disorder - nuclear genes
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review | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
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Phenotypes
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PDK3 in Hereditary neuropathy
Level 3: Motor and Sensory Disorders of the PNS
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review | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
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Phenotypes
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PDK3 in Mitochondrial disorders
Level 3: Mitochondrial
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review | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
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Phenotypes
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PDK3 in Hereditary neuropathy or pain disorder
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review | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
Sources
Phenotypes
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