galactosemia

(redirected from Galt deficiency)
Also found in: Dictionary, Medical, Encyclopedia, Wikipedia.
Related to Galt deficiency: Galactosaemia
  • noun

Words related to galactosemia

a genetic disease (autosomal recessive) in which an enzyme needed to metabolize galactose is deficient or absent

References in periodicals archive ?
The 2 controls and 6 patients with GALT deficiency had GALE activities that ranged from 433 to 993 [micro]mol * [g.
In 14 cases, 2 copies of DNA mutations responsible for GALT deficiency were identified (11 homozygotes, 3 compound heterozygotes).
The diagnosis of GALT deficiency became even more complex when the mild Duarte GALT variant was identified.
Severe GALT deficiency, the most frequent form among the 3, results in classical galactosemia (OMIM 230400), which is characterized by jaundice, liver disease, anemia, encephalopathy, and cataracts.