Glycerol Kinase Deficiency (GKD)

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Disease Ontology 12 DOID:0060363 OMIM 56 307030 KEGG 36 H02013 MeSH 43 D002239 SNOMED-CT 67 297256008 MESH via Orphanet 44 C538138

ICD10 via Orphanet 33 E74.8 UMLS via Orphanet 72 C0268418 C0574108 Orphanet 58 ORPHA284408 ORPHA284411 ORPHA284414 ORPHA308993 ORPHA408 more MedGen 41 C0268418 SNOMED-CT via HPO 68 111266001 111563005 128602000 128613002 129565002 193225000 194021007 204878001 214264003 22006008 22066006 224958001 22640007 228156007 237630007 237785004 237836003 246545002 247578003 248200007 249710008 263934009 267258002 268029009 271327008 274521009 274523007 276610007 276617005 302866003 313307000 32003007 371632003 386584007 398151007 398152000 398206004 398302004 418107008 419045004 444896005 56051008 59455009 59576002 61960001 64217002 64859006 73297009 84757009 90145001 91138005 91175000 95515009 more UMLS 71 C0268418 C0574108

NIH Rare Diseases : ⁵² The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 408 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)). Visit the Orphanet disease page for more resources.

MalaCards based summary : Glycerol Kinase Deficiency, also known as hyperglycerolemia, is related to chromosome xp21 deletion syndrome and adrenal hypoplasia, congenital, and has symptoms including seizures An important gene associated with Glycerol Kinase Deficiency is GK (Glycerol Kinase), and among its related pathways/superpathways are Glycerolipid metabolism and PPAR signaling pathway. Affiliated tissues include eye, liver and skeletal muscle, and related phenotypes are intellectual disability and global developmental delay

Disease Ontology : ¹² An inherited metabolic disorder characterized by wide range of phenotypic variability; patients can have severe metabolic and CNS abnormalities, while others possess hyperglycerolemia and glyceroluria with no other apparent phenotype and that has material basis in mutation in the GK gene on chromosome Xp21.

OMIM : ⁵⁶ Francke et al. (1987) noted that there are 3 clinically distinct forms of glycerol kinase deficiency: infantile, juvenile, and adult. The infantile form is associated with severe developmental delay, and those with the adult form have no symptoms and are often detected fortuitously. The infantile form of GK deficiency, or the 'GK complex,' results from the Xp21 contiguous gene deletion syndrome (300679) with congenital adrenal hypoplasia (300200) and/or Duchenne muscular dystrophy (DMD; 310200), whereas the juvenile and adult forms have isolated GK deficiency (Walker et al., 1996). (307030)

KEGG : ³⁶ Glycerol kinase deficiency is an X-linked recessive disorder. There are two types, an isolated form and a complex form (chromosome Xp21 deletion syndrome). Isolated glycerol kinase deficiency results from mutations in GK gene. It has an inconstant phenotype, ranging from asymptomatic hyperglycerolemia to a severe metabolic disorder with growth and psychomotor retardation.

UniProtKB/Swiss-Prot : ⁷³ Glycerol kinase deficiency: A metabolic disorder manifesting as 3 clinically distinct forms: infantile, juvenile, and adult. The infantile form is the most severe and is associated with severe developmental delay and adrenal insufficiency. Patients with the adult form have no symptoms and are often detected fortuitously. GKD results in hyperglycerolemia, a condition characterized by the accumulation of glycerol in the blood and urine.

Wikipedia : ⁷⁴ Hyperglycerolemia, also known as Glycerol kinase deficiency (GKD), is a genetic disorder where the... more...

Clinical features from OMIM:

307030

Search Clinical Trials , NIH Clinical Center for Glycerol Kinase Deficiency

Search GEO for disease gene expression data for Glycerol Kinase Deficiency.