Huma Arshad Cheema.
Galactosaemia - presentation, diagnosis and management.
Biomedica Jan ;20(1):45-7.

Galactosaemia is a rare autosomal recessive metabolic disorder. It presents in early life with hypoglycaemia and encephalopathy or progressive jaundice followed by liver failure. Cataract may be visible on naked eye examination. Diagnosis is highly suggested by detecting reducing substances in urine without glycosuria in an infant with hepatic dysfunction. Dietary therapy by elimination of galactose is the mainstay of treatment. The outcome for treated galactosaemia is not yet optimal. This paper reports the experience of presentation, diagnosing and management of galactosaemia at The Childrens Hospital & the Institute of Child Health, Lahore. This paper presents a prospective, observational study from January 1999 to April, 2004. Diagnosis was made on the criteria including (a) clinical presentation of a neonate with hepatic dysfunction, (b) strongly positive urine reducing substances with the absence of glycosuria as determined by negative Clinistix test and (c) rapid clinical improvement on elimination of galactose from the diet of infants. Diagnosis of galactosaemia was made in 18 infants over the study period. Their age at presentation ranged from 35 days - 9 months (median 10 weeks). There were 12 males and 6 females (M/F ratio 2:1). Most common mode of presentation was fulminant hepatic failure (FHF). Cataract was present in the majority of patients. Laboratory values showed raised bilirubin and universal coagulopathy. Fourteen patients responded to galactose elimination and showed initial dramatic improvement in clinical and lab parameters. Four patients (22 %) died. Galactosemia is not uncommon in our community; diagnosis needs to be suspected in sick neonates and infants with severe hepatic dysfunction. Early galactose elimination from diet leads to dramatic clinical improvement.

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