Galactose mutarotase deficiency
Synonyms: Galactosemia type IV · Type 4 galactosemia · Type IV galactosemia · GALM deficiency · GALM deficiency galactosemia · Galactose mutarotase deficiency galactosemia · Galactosemia type 4
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare genetic disorder of galactose metabolism characterized by persistent congenital galactosemia due to deficiency of the enzyme galactose mutarotase. Patients may present bilateral cataract, mild liver dysfunction/elevated AST, ALT/hepatomegaly and jaundice in the neonatal period.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Galactose mutarotase deficiency | Galactosemia type IV · Type 4 galactosemia · Type IV galactosemia · GALM deficiency · GALM deficiency galactosemia · Galactose mutarotase deficiency galactosemia · Galactosemia type 4 |
| fr | Déficit en galactose mutarotase | Déficit en GALM · Galactosémie de type 4 · Galactosémie de type IV · Galactosémie par déficit en GALM · Galactosémie par déficit en galactose mutarotase |
| de | Galaktose-Mutarotase-Mangel | GALM-Mangel · Galaktosämie Typ IV · GALM-Defizienz · Galaktosämie Typ 4 |
| es | Deficiencia de galactosa mutarotasa | Galactosemia por deficiencia de galactosa mutarotasa · Galactosemia tipo IV · Galactosemia por deficiencia de GALM · Deficiencia de GALM · Galactosemia tipo 4 |
| it | Deficit di galattosio mutarotasi | Galattosemia tipo IV · Galattosemia da deficit di GALM · Galattosemia da deficit di galattosio mutarotasi · Defici di GALM · Galattosemia tipo 4 |
| nl | Deficiëntie van galactosemutarotase | Type IV galactosemie · Type 4 galactosemie · GALM-deficiëntie · Galactosemie door GALM-deficiëntie · Galactosemie door deficiëntie van galactosemutarotase · Galactosemie type IV · Galactosemie type 4 |
| pt | Deficiência de galactose mutarotase | |
| pl | Niedobór mutarotazy galaktozowej | Galaktozemia typu 4 |
| cs | Deficit galaktóza-mutarotázy | = en |
| uk | Дефіцит галактозо-мутаротази | Галактоземія типу 4 · Дефіцит GALM |
| zh | 半乳糖变旋酶缺乏症 | 半乳糖血症4型 |
| tr | Galaktoz mutarotaz eksikliği | GALM eksikliği · Galaktozemi tip 4 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 618881 | E | validated | |
| ICD-10 | E74.2 | NTBT | attributed | validated |
| ICD-11 | 5C51.4Y | NTBT | attributed | validated |
| MONDO | 30105 | E | validated | |
| UMLS | C5394377 | 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 (1):
- ORPHA:352Galactosemia
rare inborn errors of metabolism; rare genetic diseases; rare renal diseases; rare ophthalmic disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GALM | Disease-causing germline mutation(s) in | Assessed | HGNC:24063 | ENSG00000143891 | 137030 | 2p22.1 | galactose mutarotase | 30451973[PMID] |
Prevalence and incidence
4 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only | Validated | ORPHANET |
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET |
| Annual incidence | 1-9 / 1 000 000 | 0.4 / 100 000 | Worldwide | Value and class | Validated | 30451973[PMID] |
| Annual incidence | 1-9 / 100 000 | 1.2 / 100 000 | Japan | Value and class | Validated | 30451973[PMID] |
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
10 annotations · validated 2021-06-30| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012379 | Abnormal enzyme/coenzyme activity | |
| HP:0012024 | Hypergalactosemia | |
| HP:0004915 | Impairment of galactose metabolism | |
| Frequent (79-30%) | ||
| HP:0000518 | Cataract | |
| Occasional (29-5%) | ||
| HP:0001396 | Cholestasis | |
| HP:0001410 | Decreased liver function | |
| Very rare (<4-1%) | ||
| HP:0000707 | Abnormality of the nervous system | |
| HP:0001508 | Failure to thrive | |
| HP:0002240 | Hepatomegaly | |
| HP:0100806 | Sepsis | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 33181226[PMID]_33181226[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/570422
- This record as JSON: /data/d/570422.json