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Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.617
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review
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Unknown
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Sources
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Literature
Phenotypes
- Pyruvate dehydrogenase kinase deficiency (Disorders of pyruvate metabolism)
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Version 5.3
Latest signed off version: v5.0
(1 May 2024)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
Unexplained death in infancy and sudden unexplained death in childhood
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review
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Unknown
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Sources
- Expert Review Red
- London North GLH
- NHS GMS
Phenotypes
- No OMIM phenotype
- Pyruvate dehydrogenase kinase deficiency (Disorders of pyruvate metabolism)
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Level 3: Mitochondrial
Level 2: Metabolic disorders
Version 6.4
Latest signed off version: v6.0
(1 May 2024)
Component of the following Super Panels:
Childhood onset leukodystrophy
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review
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Not set
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Sources
- Radboud University Medical Center, Nijmegen
Phenotypes
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