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isolated glycerol kinase deficiency

^ 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 ). [ Orphanet:408 ]

Term info

database cross reference
  • GARD:0002807 (MONDO:equivalentTo)
  • Orphanet:408 (MONDO:equivalentTo)
Subsets

ordo_disease

IAO 0000233

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

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 ).

exactMatch

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

has exact synonym

hyperglycerolemia, nonsyndromic glycerol kinase deficiency, isolated inborn glycerol kinase deficiency, nonsyndromic inborn glycerol kinase deficiency

id

MONDO:0018459