Galactokinase deficiency
General Information (adopted from Orphanet):
| Synonyms, Signs: |
GALK-D GALACTOSEMIA II Galactokinase deficiency galactosemia galk deficiency Galactosemia type 2 |
| Number of Symptoms | 7 |
| OrphanetNr: | 79237 |
| OMIM Id: |
230200
|
| ICD-10: |
E74.2 |
| UMLs: |
C0268155 C0751158 |
| MeSH: |
C535999 |
| MedDRA: |
|
| Snomed: |
124302001 |
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Galactosemia
-Rare eye disease -Rare genetic disease -Rare hepatic disease -Rare renal disease |
Symptom Information:
|
|
(HPO:0000518) | Cataract | Very frequent [Orphanet] | 454 / 7739 | |||
|
|
(HPO:0012023) | Galactosuria | 5 / 7739 | ||||
|
|
(HPO:0001939) | Abnormality of metabolism/homeostasis | Very frequent [Orphanet] | 328 / 7739 | |||
|
|
(HPO:0012024) | Hypergalactosemia | 6 / 7739 | ||||
|
|
(OMIM) | Pseudotumor cerebri | 3 / 7739 | ||||
|
|
(OMIM) | Cataracts, formation may be reversible with early dietary management | 1 / 7739 | ||||
|
|
(OMIM) | Decreased galactokinase activity | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|
Additional Information:
| Description: (OMIM) |
Galactokinase deficiency is an autosomal recessive disorder which causes cataract formation in children not maintained on a lactose-free diet. Cataract formation is the result of osmotic phenomena caused by the accumulation of galactitol in the lens (Asada et ... |
| Clinical Description OMIM |
Gitzelmann (1967) reported juvenile cataracts related to galactokinase deficiency in 2 sibs of a consanguineous Gypsy family, Fanconi had previously reported the cases as instances of 'galactose diabetes;' however, GALT activity in red cells was normal. There was ... |
| Molecular genetics OMIM |
In 2 patients with galactokinase deficiency and cataracts, Stambolian et al. (1995) identified 2 different homozygous mutations in the GALK1 gene (604313.0001; 604313.0002). One of the patients had been reported by Pickering and Howell (1972). In ... |
| Population genetics OMIM |
Mayes and Guthrie (1968) found 6 heterozygotes for galactokinase deficiency among 642 persons in Buffalo, N.Y. In Italy, Magnani et al. (1982) estimated the heterozygote frequency to be 1 in 310; 2 persons presumably heterozygous by ... |