EC Nutrition

Male patient of 7 months admitted to the Pediatric Service of the Institute of Gastroenterology, for yellowing of the skin and mu- cous membranes, diarrhea and weight loss, as a result of a third pregnancy of parents without a degree of consanguinity, delivery at term, physiological, weight and size appropriate for gestational age, APGAR 9/9; He presented prolonged icterus without apparent complications. A history of multiple admissions due to complicated diarrheal diseases. Among the clinical signs of interest, the yellowish color of the skin and mucous membranes is remarkable, as well as a marked decrease in the panniculus adipose, the globular abdomen and the hepatomegaly of 5 cm. of fine edges. In the interrogation, made to the mother, it was known that the symptoms began with the introduction of breastfeeding, characterized by vomiting and diar- rhea. Metabolic disease was suspected and it was consulted with the Hospital Pedro Borras Nutrition, indicating a urine test in which galactose appears, later it was indicated, quantification of galactose in blood that showed values ​​ of 20 mg/dl and enzymatic activity whose values ​​ were 4.3 u/gHb, conclusive of galactosemia. Dietary treatment was indicated, excluding dairy products and their derivatives, appreciating clinical, anthropometric and bio- chemical improvements. In the follow-up controls, elevated levels of pyruvic transaminase (30 IU) were found, which motivates their re-entry, detecting a transgression in the diet. Adjustment of the daily intake is made, with a satisfactory evolution.

keywords: Galactosemia; Enzymatic Activity; Dietary Therapy Treatment

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