|
Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.617
|
review
|
Unknown
|
Sources
- Expert Review Red
- Literature
Phenotypes
- Pyruvate dehydrogenase kinase deficiency (Disorders of pyruvate metabolism)
|
|
Version 4.137
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
|
Unknown
|
Sources
- London North GLH
- NHS GMS
- Expert Review Red
Phenotypes
- No OMIM phenotype
- Pyruvate dehydrogenase kinase deficiency (Disorders of pyruvate metabolism)
|
|
Level 3: Mitochondrial
Level 2: Metabolic disorders
Version 4.169
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
|