galactosemia

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Related to Galactosaemia: galactosemia, Classic Galactosemia

galactosemia

(gəlăk'təsē`mēə), inherited metabolic disorder caused by an enzyme deficiency and transmitted as a recessive trait; it results in the accumulation of the sugar galactose in the body. The disorder is manifested soon after birth by feeding problems and diarrhea. Galactose is accumulated principally in the liver of the newborn infant, where it may induce cirrhosis, and in the lens of the eye, where cataracts may develop. Low glucose levels cause sufficient hypoglycemia to affect the central nervous system with resulting mental retardation. These ill effects can be prevented by removing milk and all other foods containing galactose and lactose from the diet.

galactosemia

[gə‚lak·tō′sē·mē·ə]
(medicine)
A congenital metabolic disorder caused by an enzyme deficiency and marked by high blood levels of galactose.
References in periodicals archive ?
Not included in this series are those cases where encephalopathy may be secondary to failure of other organs such as hepatorenal failure in tyrosinaemia type 1 and galactosaemia, adrenal failure in adrenoleukodystrophy (X-ALD) or hypoglycaemia in glycogen storage disease type 1.
The central nervous system (CNS) may be secondarily involved, as in galactosaemia.
He had diagnosed another new-born baby with galactosaemia 15 years earlier.
1,2] Recently, in KwaZulu-Natal province, at least 4 infants with galactosaemia have been affected by the phenomenon of galactose interfering with glucose meters and producing high readings, resulting in the misdiagnosis of hyperglycaemia.
This was due to a high blood galactose level in this patient, in whom the diagnosis of galactosaemia due to transferase deficiency was subsequently confirmed.