Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.615
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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 4.134
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
Unexplained death in infancy and sudden unexplained death in childhood
|
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 4.167
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
|
review
|
Not set
|
Sources
- Radboud University Medical Center, Nijmegen
Phenotypes
|