ORPHA:723106

Biochemical variant galactosemia

Synonyms: Duarte D2 variant · Duarte galactosemia · Duarte variant galactosemia

Type: Biological anomaly
Group: Disorder
Status: active

A form GALT deficiency characterized by high residual GALT activity (typically 25-30% of control activity) in otherwise asymptomatic patients. No follow-up is required.

Names in Orphadata languages

9 of 12 languages

Lang	Name	Synonyms
en	Biochemical variant galactosemia	Duarte D2 variant · Duarte galactosemia · Duarte variant galactosemia
fr	Galactosémie variante biochimique	Variante Duarte D2 · Galactosémie de Duarte · Galactosémie variante de Duarte
de	Biochemische Variante der Galaktosämie	Duarte-D2-Variante · Duarte-Galaktosämie
es	Galactosemia variante bioquímica	Galactosemia de Duarte · Galactosemia variante de Duarte · Variante Duarte D2
it	Galattosemia variante biochimica	Galattosemia di Duarte · Galattosemia variante Duarte · Variante D2 Duarte
nl	Biochemische variant van galactosemie	Duarte-variant van galactosemie · Duarte-galactosemie · Duarte D2-variant
pt	Biochemical variant galactosemia
pl	Biochemical variant galactosemia	= en
cs	Biochemical variant galactosemia	= en

Cross-references

qualifier = Orphanet mapping relation

No cross-references in this release.

Classification

Preferential parent (Orphanet linearisation):

ORPHA:68367Rare inborn error of metabolism

Parents in the classifications (1):

ORPHA:723094Galactose-1-phosphate uridylyltransferase deficiency
rare inborn errors of metabolism; rare genetic diseases; rare hepatic diseases; rare renal diseases; rare ophthalmic disorders

No children.

Genes

0 direct

Orphanet records no gene directly on this code.

Prevalence and incidence

0 records

No prevalence record in this release.

HPO phenotypes

Orphanet has no HPO annotation for this code in this release.

Sources for this card

Orphanet page: orpha.net/en/disease/detail/723106
This record as JSON: /data/d/723106.json