Nutritional status of some micronutrients and trace elements in patients with phenylketonuria

Children with special needs; those having inborn errors of metabolism are prone to certain micronutrient deficiencies either due to rigid therapeutic dietary restriction, aversion to certain food stuffs or due to recurrent episodes of vomiting and diarrhea. This will eventually ensue if no parallel specific elemental replacement measures are carried out. Micronutrient deficiencies often occur concurrently, and there are many interactions between micronutrients. Children with phenylketonuria [PKU] are treated with semi-synthetic formula containing low phenylalanine [Phe] content. It provides the majority of protein and energy in the diet while the rest of phenylalanine are met by low protein natural foods. Because of the restricted intake of high biological value protein, children with PKU are often expected to have lower than normal plasma concentrations of certain micronutrients. The aim of the study is to assess the effects of phenylalanine restricted diet on the growth of our PKU patients after one year of dietary management. We also aimed to investigate the nutritional status of the following trace elements and micro-nutrients; zinc, copper, vitamins C, E, A, and B-carotene among 17 PKU patients following dietary coupled with multivitamin supplementation. Data were compared to those of their matched normal controls. PKU patients were found to have marginal vitamin A deficiency as the mean plasma level was 25.2 +/- 6.62ug/dl versus 48.5 +/- 10.1ug/dl of their control. The difference was very highly significant [p<0.0001]. Mean plasma levels of B-carotene was also less than that of controls with a highly significant difference [50.65 +/- 15.37ug/dl Vs.-75.80 +/- 19.60ug/dl; p<0.001]. Mean plasma levels of zinc, copper, vitamins C and E were comparable to those of controls without statistical significance [p>0.05]. Physical growth parameters were not significantly different between the two groups. A basic nutritional care plan for dietary intervention managing PKU children should involve periodic assessment of protein and calorie nutritional status in addition to regular careful evaluation of micronutrient nutritional status

Correlation between clinical manifestations and magentic resonance imaging [MRI] in ecyption children with phenylketonuria [PKU]

Phenylketonuria is the most common of all amino acidopathies. It is caused by blok in the conversion of phenylalanine into tyrosine due to defect in either the enzyme phenylalanine hyproxylase [98% of subjects] or in metabolism of the cofactor tertahydrobiopterin [2% of subjects]. The present work-was conducted to study the correlation between clinical and brain MRI finding in 28 patients with PKU, 17 [6031] males and 11[39.29%] females whose age ranged from 2.5 years to 16 years. All patient of the present work were subjected to full history taking clinical examination, IQ. assessment using Stanford Binet test determination of serum PHE level, and brain MRI study Consanguinity [82.14%] and similar condition in the family [71.43%] are commonly present in presents with PKU. Development delay was found in 100% of cases, while mental retardation was found in 96.42% of cases, also HD was present in 42.85% of cases and epilepsy was represented in 17.85% of cases. All patients [100%] were presented with skin and hair hypopigmentation to a variable extent, while blue eyes were found in 7.14% of cases, however eczematous skin rash was not present at all. Neurological evaluation revealed that, 25% of cases were presented with quadriparesis, 3.57% with left intention tremors without other manifestations of cerebellar affection According to IQ, 3.57% had normal mentality, 32.14% had mild MR and 64.2% had moderate MR. The serum levels of phenylalanine revealed that all cases had high serum PHE level, it was ranged from 5.6 mg/dl to 29.7 mg/dl with mean level 18 mg/dl. A positive correlation between age of the patients and serum PHE level was commonly found in patients with PKU. Abnormal brain MRI finding were present in 71.42% of cases in the form of perivcntricular dysmyelination without cerebellar abnormalities-A significant relation between brain MRI findings dysmyelination, and the type of the clinical groups, every individual symptom and the serum PHE level was not found