Galactosemia III

Preferred Label : Galactosemia III;

Symbol : GALAC3;

CISMeF acronym : GALAC3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Udp-galactose-4-epimerase deficiency; Galactose epimerase deficiency; Gale deficiency;

Description : Epimerase-deficiency galactosemia was originally described as a benign condition in which GALE impairment is restricted to circulating red and white blood cells (Gitzelmann, 1972). Fibroblasts, liver, phytohemagglutinin-stimulated leukocyes, and Epstein Barr virus-transformed lymphoblasts from these patients all demonstrated normal or near-normal levels of GALE, leading to the designation 'peripheral' (or 'isolated') epimerase deficiency. A second form of epimerase deficiency became apparent in which a patient, despite normal;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutations in the UDP-galactose-4-epimerase gene, 'severe' form (GALE, 606953.0008); Caused by mutations in the UDP-galaltose-4-epimerase gene, 'mild' form (GALE, 606953.0001).;

Laboratory abnormalities : Galactosemia; Galactosuria; Aminoaciduria; UDP-galactose-4-epimerase deficiency in all cells ('generalized' or 'severe' form);

Prefixed ID : #230350;

Details

Origin ID

230350;

UMLS CUI

C0751161;

Automatic exact mappings (from CISMeF team)
- Galactosemia [PASCAL descriptor]
- Galactosemia [NCIt concept]
- galactosemias [MeSH Descriptor]
Currated CISMeF NLP mapping
- Galactose epimerase deficiency [LOINC component]
- Galactose epimerase deficiency [ORDO Disease]
- Generalised uridine diphosphate galactose-4-epimerase deficiency [ICD-11 More detail]
- Generalized galactose epimerase deficiency [ORDO Disease]
- Generalized uridine diphosphate galactose-4-epimerase deficiency (disorder) [SNOMED CT concept]
- UDPglucose 4-Epimerase deficiency disease [MeSH concept]
- Uridine diphosphate galactose-4-epimerase deficiency [ICD-11 More detail]
- Uridine diphosphate glucose-4-epimerase deficiency (disorder) [SNOMED CT concept]
- galactose epimerase deficiency [DO Concept]
- udpglucose-4-epimerase deficiency [SNOMED Notion]
DO Cross reference
- galactose epimerase deficiency [DO Concept]
Genes related to phenotype
- Udp-galactose-4-epimerase [OMIM gene]
HPO term(s)
- Aminoaciduria [HPO term]
- Autosomal recessive inheritance [HPO term]
- Delayed gross motor development [HPO term]
- Delayed speech and language development [HPO term]
- Failure to thrive [HPO term]
- Galactosuria [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hepatomegaly [HPO term]
- Hypergalactosemia [HPO term]
- Hypotonia [HPO term]
- Intellectual disability [HPO term]
- Jaundice [HPO term]
- Sensorineural hearing impairment [HPO term]
- Splenomegaly [HPO term]
- Vomiting [HPO term]
ORDO concept(s)
- Erythrocyte galactose epimerase deficiency [ORDO Disease]
- Galactose epimerase deficiency [ORDO Disease]
- Galactosemia [ORDO Disease]
- Generalized galactose epimerase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Galactose epimerase deficiency [LOINC component]
- Galactose epimerase deficiency [ORDO Disease]
- UDPglucose 4-Epimerase deficiency disease [MeSH concept]
- Uridine diphosphate glucose-4-epimerase deficiency (disorder) [SNOMED CT concept]
- galactose epimerase deficiency [DO Concept]
- udpglucose-4-epimerase deficiency [SNOMED Notion]
Validated automatic mappings to NTBT
- Galactosemia [ORDO Disease]

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