Galactose epimerase deficiency
Synonyms: GALE deficiency · GALE deficiency galactosemia · Galactose epimerase deficiency galactosemia · Galactosemia type 3 · Galactosemia type III · Type 3 galactosemia · Type III galactosemia · UDP-galactose-4-epimerase deficiency · Uridine diphosphate galactose-4-epimerase deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare galactosemia characterized by a spectrum of clinical presentations. In the peripheral form, GALE impairment is restricted to circulating red and white blood cells, with normal or near-normal levels in fibroblasts and/or other tissues (liver, EBV transformed fibroblasts). The intermediate form is defined as a deficient GALE enzyme activity in red and white blood cells, and < 50% of normal enzyme levels in fibroblasts and/or other tissues. In generalized GALE deficiency, the enzyme activity is profoundly decreased in all tissues.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Galactose epimerase deficiency | GALE deficiency · GALE deficiency galactosemia · Galactose epimerase deficiency galactosemia · Galactosemia type 3 · Galactosemia type III · Type 3 galactosemia · Type III galactosemia · UDP-galactose-4-epimerase deficiency · Uridine diphosphate galactose-4-epimerase deficiency |
| fr | Déficit en galactose épimérase | Déficit en GALE · Déficit en UDP-galactose-4-épimérase · Déficit en uridine diphosphate-galactose-4-épimérase · Galactosémie de type 3 · Galactosémie de type III · Galactosémie par déficit en GALE · Galactosémie par déficit en UDP-galactose-4-épimérase · Galactosémie par déficit en uridine diphosphate-galactose-4-épimérase · Galactosémie par déficit en galactose épimerase |
| de | Galaktose-Epimerase-Mangel | Epimerase-Mangel, galaktosämischer · GALE-Mangel · Galaktosämie Typ 3 · Galaktosämie Typ III · UDP-Galaktose-4-Epimerase-Mangel |
| es | Deficiencia de galactosa epimerasa | Galactosemia tipo III · Deficiencia de uridina difosfato galactosa-4-epimerasa · Galactosemia por deficiencia de galactosa epimerasa · Galactosemia tipo 3 · Galactosemia por deficiencia de GALE · Deficiencia de GALE · Deficiencia de UDP-galactosa-4-epimerasa |
| it | Deficit di galattosio epimerasi | Galattosemia da deficit di galattosio epimerasi · Deficit di GALE · Galattosemia tipo 3 · Deficit di uridina difosfato galattosio-4-epimerasi · Galattosemia tipo III · Galattosemia con deficit di epimerasi · Galattosemia da deficit di GALE |
| nl | Deficiëntie van galactose-epimerase | Type 3 galactosemie · Deficiëntie van UDP-galactose-4-epimerase · Deficiëntie van uridinedifosfaatgalactose-4-epimerase · GALE-deficiëntie · Galactosemie door GALE-deficiëntie · Galactosemie door deficiëntie van galactose-epimerase · Galactosemie type III · Galactosemie type 3 · Type III galactosemie |
| pt | Deficiência de UDP-galactose-4-epimerase | |
| pl | Niedobór epimerazy galaktozy | Galaktozemia typu 3 · Galaktozemia z niedoboru epimerazy · GALE-D · Niedobór GALE · Niedobór UDP-galaktozo-4-epimerazy · Niedobór urydynodifosforogalaktozo-4-epimerazy |
| cs | Deficit galaktózaepimerázy | Deficit GALE · GALE-D · Galaktosémie, typ 3 · Deficit UDP-galaktóza-4-epimerázy · Deficit uridindifosfát-galaktóza-4-epimerázy · Galaktosémie způsobená deficitem epimerázy |
| uk | Дефіцит галактозної епімерази | Галактоземія внаслідок дефіциту епімерази · Галактоземія типу 3 · Дефіцит GALE · GALE-D · Дефіцит УДФ-галактозо-4-епімерази · Дефіцит уридиндифосфат-галактозо-4-епімерази |
| zh | 半乳糖表异构酶缺乏 | 尿苷二磷酸半乳糖-4-差向异构酶缺乏症 |
| tr | Galaktoz epimeraz eksikliği | GALE-D · GALE eksikliği · Galaktozemi tip 3 · Epimeraz eksikliği galaktozemi · UDP-galaktoz-4-epimeraz eksikliği · Üridin difosfat galaktoz-4-epimeraz eksikliği |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 230350 | E | validated | |
| ICD-10 | E74.2 | NTBT | attributed | validated |
| ICD-11 | 5C51.4Y | NTBT | index | validated |
| MONDO | 0009257 | E | validated | |
| UMLS | C0751161 | E | validated | |
| GARD | 5392 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:352Galactosemia
rare inborn errors of metabolism; rare genetic diseases; rare renal diseases; rare ophthalmic disorders - ORPHA:101940Rare metabolic liver disease
rare genetic diseases; rare hepatic diseases
Genes
0 direct · 2 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| GALE | ORPHA:308473Erythrocyte galactose epimerase deficiency | Disease-causing germline mutation(s) in | Assessed | HGNC:4116 | ENSG00000117308 | 606953 | 1p36.11 | UDP-galactose-4-epimerase | |
| GALE | ORPHA:308487Generalized galactose epimerase deficiency | Disease-causing germline mutation(s) in | Assessed | HGNC:4116 | ENSG00000117308 | 606953 | 1p36.11 | UDP-galactose-4-epimerase |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
13 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003355 | Aminoaciduria | |
| HP:0000518 | Cataract | |
| HP:0011968 | Feeding difficulties | |
| HP:0001263 | Global developmental delay | |
| HP:0001510 | Growth delay | |
| HP:0002240 | Hepatomegaly | |
| HP:0001252 | Hypotonia | |
| HP:0004915 | Impairment of galactose metabolism | |
| HP:0001249 | Intellectual disability | |
| HP:0000952 | Jaundice | |
| HP:0002017 | Nausea and vomiting | |
| HP:0001744 | Splenomegaly | |
| HP:0001824 | Weight loss | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 21290786[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79238
- This record as JSON: /data/d/79238.json