ABSTRACT
Phenylketonuria (PKU) is due to of a defect in the phenylalanine hydroxylase gene (12q22-24.1) leading to hyperphenylalaninemia. Treatment consists in a low phenylalanine (Phe) diet. Aim: To evaluate the evolution of early diagnosed PKU children, receiving direct breast feeding, and a special formula without Phe, during their first six months of life. Patients and methods: Nineteen PKU children diagnosed in the neonatal period (19.29±13.8 days of age), treated with breast feeding and formula without Phe since diagnosis, were studied. Intake of calories, proteins and dietary Phe were quantified. Blood Phe, nutritional status and psychomotor development were also measured. Results: The diet that these children received during the 6 months period of study, had a mean of 127±19.9 Kcal/kg/day, 1.95±0.3 g protein/kg/day and 35.3±9.5 mg Phe/kg/day. Fifteen children maintained the blood level of Phe under 8 mg/dl, considered an excellent metabolic control. Only 4 cases had intermittently high levels, between 10-12 mg/dl. At 6 months of age, 74% of the children maintained breast feeding as the only source of Phe. Sixty three percent had a normal nutritional status, 5.2% were at nutritional risk and 31.6% were overweight. Eighty one percent had a normal mental development. Conclusions: The use of direct breast feeding allows a good metabolic control and improves growth and development of early diagnosed PKU children (Rev Méd Chile 2003; 131: 1280-87).
Subject(s)
Humans , Male , Female , Infant, Newborn , Infant , Breast Feeding , Phenylalanine Hydroxylase/administration & dosage , Phenylketonurias/diagnosis , Cross-Sectional Studies , Follow-Up Studies , Phenylalanine Hydroxylase/blood , Proteins/administration & dosage , Psychomotor Performance/physiology , Retrospective StudiesSubject(s)
Humans , Male , Female , Infant, Newborn , Infant , Metabolic Diseases/diet therapy , Food, Formulated , Amino Acids/blood , Breast Feeding , Citrullinemia , Isoleucine , Leucine , Maple Syrup Urine Disease , Ornithine Carbamoyltransferase , ValineABSTRACT
Background: The early detection of peripheral neuropathy in diabetics is important since it is the main riskfactor for lower limb trophic lesions in diabetics. Aim: To assess the relationship between feet thermal sensation threshold and metabolic control in ambulatory non-insulin-dependent diabetics. Pattients and methods: A random sample of 34 non-insulin-dependent diabetic followed for more than five years in a special clinic, out of 368 patients, was selected. Warmth sensation thresbolds were measured in the dorsum of booth feet using a MSTP-III thermostimulator The average value of all glycosylated hemoglobins obtained during the 9.7 ñ 5.3 years of follow up for each patient was calculated. A multiple stepwise regression analysis was performed between thermal sensation as the dependent variable and glycosylated hemoglobin, fasting blood glucose, age and diabetes duration. Results: The regression model disclosed glycosylated hemoglobin as the only independent predictor of warmth sensation threshold (partial r= 0.385; p= 0.043). Fifteen diabetic patients with metabolic control, defined as those with a mean glycosylated hemoglobin of less than 9.5 percent, had a warmth sensation threhold of 35.6 ñ 3.7 ºC, whereas 19 diabetics with a bad control (glycosylated hemoglobin 9.5 percent) had a threshold of 39 ñ 3.8 ºC(p= 0.017). Conclusions: In this group of diabetics there is a relationship between the severity of distal polyneuropathy and the metabolic contrl, assessed with glycosylated hemoglobin levels