GALACTOSEMIA IN INFANCY

[摘要] GALACTOSEMIA is an uncommon disorder of carbohydrate metabolism characterized by the inability of the body to utilize ingested galactose. The symptoms and signs of this disease in infancy are: failure to gain weight, retardation of development, enlargement of the liver and spleen, melituria, excretion of albumin in the urine, often osteoporosis and cataract formation. Recognized instances of galactosemia are uncommon; only nine substantiated cases have been reported in medical literature. A review of these cases emphasizes the importance of accurate diagnosis, since proper treatment, that is, elimination of galactose from the diet, results in clinical improvement, gain of weight, decrease in the size of the liver and spleen, and elimination of albumin and reducing substance from the urine. Evidence indicates that this clinical improvement is not associated with any alteration in the intolerance to ingested galactose, although follow-up studies over a long period have not been reported.An infant with galactose intolerance has recently been observed for 24 months after the diagnosis was established.Report of CaseA white male infant aged 4½ mo. was admitted to the hospital with the complaints of poor gain of weight, retarded development, pallor, vomiting and diarrhea since birth.He was the fifth child of apparently healthy parents. The oldest sibling was 9½ yr. old and in good health; the second child had died at the age of 2½ mo. with symptoms of diarrhea and a diagnosis of cystic fibrosis of the pancreas; the third child had died at the age of 3 wk. of unknown causes; the fourth child was 2½ yr. of age and had nephrosis.

[学科分类] 儿科学