This Publication Is Searchable The Merck Manual of Diagnosis and Therapy Section 19. Pediatrics Chapter 269. Conversion of galactose to glucose is shown in Fig.
Clinical manifestations depend on the site of the defect.
Galactokinase Deficiency Inheritance is autosomal recessive. In this disorder, galactose accumulates and is reduced by an alternative pathway to galactitol, resulting in osmotic damage to the lens fibers. Early development of cataracts follows ingestion of galactose or galactose-containing carbohydrate, most commonly lactose. Hepatic and renal damage and neurologic disturbances do not occur. The diagnosis should be suspected in any child with cataracts.