Terminology Service for NFDI4Health

isolated glycerol kinase deficiency

Go to external page http://purl.obolibrary.org/obo/MONDO_0018459


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 ). [ ]

Term info

Label

isolated glycerol kinase deficiency

Synonyms
  • hyperglycerolemia
  • isolated inborn glycerol kinase deficiency
  • nonsyndromic glycerol kinase deficiency
  • nonsyndromic inborn glycerol kinase deficiency
database cross reference
Subsets

ordo_disease

exactMatch

http://purl.obolibrary.org/obo/Orphanet_408

id

MONDO:0018459

narrowMatch

https://icd.codes/icd10cm/E74.8

see also

https://github.com/monarch-initiative/mondo-build/issues/49