Isolated glycerol kinase deficiency

Orpha code: 408OMIM code: 307030

Definition

Isolated glycerol kinase deficiency (GKD) is a very rare X-linked disorder of glycerol metabolism characterized biochemically by elevated plasma and urine glycerol levels, and clinically by variable neurometabolic manifestations, depending on the age of onset, and varying from a life-threatening childhood metabolic crisis to an asymptomatic adult form (infantile GKD, juvenile GKD, and adult GKD (see these terms)).

Disease data
Classification

Disease

Synonyms
Hyperglycerolemia
Hiperglicerolemia
ORPHA code
408
OMIM code
307030
ICD10 code
E74.8
ICD11 code
5C51.1

No additional description.

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