Background and objective: Infant formula is a food that mimics human milk and is intended for use by infants under 1 year old. PHENYLKETONURIA (PKU) is a congenital defect in the synthesis of phenylalanine (Phe) and is caused by the failure of phenylalanine hydroxylase converting Phe to tyrosine. In this review the current treatments for PKU are discussed. Results and conclusion: Patients with PKU should still be treated with dietary therapy, but in the long term the introduction of a wide array of new treatment approaches such as more palatable foods. Treatment, which includes a low Phe diet supplemented with amino acid formulas, commences soon after diagnosis within the first weeks of life. Other potential issues associated with dietary therapy by micronutrients. Advances in dietary therapy such as the use of neutral amino acids and glycomacropeptides (GMP) have yielded more promising data in the recent years. In conclusion, GMP medical foods and micro/macronutrient supplementation will be useful in providing the evidence allowing for standardization of management and will alternatively provide in a cost-effective way an individualized management plan for PKU patients.

Background: PHENYLKETONURIA is a hereditary, autosomal recessive disorder caused by deficiency of phenylalanine hydroxylase or its cofactor tetrahydrobiopterin. The purpose of the present study was to evaluate the incidence of this disorder in southern Iran.Methods: All the neonates born between 22/Dec/2004 and 7/Sep/2007 were screened and their blood samples were tested by colorimetric and high performance liquid chromatography methods to obtain a diagnosis of PHENYLKETONURIA. Results: Of the screened newborns (87091 females and 88143 males) 15 female and 13 male neonates were diagnosed definitely as having PHENYLKETONURIA.Conclusion: The incidence of PHENYLKETONURIA in girls and boys was 1.7 in 10000 and 1.5 in 10000, respectively (mean: 1.6 in 10000) in southern Iran (Fars province).

Background: Phenyl ketonuria (PKU) is a congenital metabolic disease. Irreversible brain damage is the result of phenyl alanin accumulation, so its amount should be restricted in patients diet. In their diet, trace elements such as hem Iron, folic acid, vitamin B12 and, etc are also limited, and could represent anemia. In this study, the frequency of anemia in PKU patients in Yazd was investigated and compare with non-affected individuals.Materials and Methods: In this case-control study, all the PKU patients of Yazd who were under diet at least for 6 months were selected. The controls were selected from non PKU population and matched with cases according to age, gender and socioeconomic level. Hematologic factors were measured in both groups and analyzed using SPSS software using T-Test.Results: This study consisted of 18 patients aged between 1 to 18 years old. Full blood count and blood indices did not show significant difference (p>0.05), except MCHC (p<0.05). The blood level of vitamin B12 and Folic acid were significantly higher in the cases than controls (p<0.05), but ferritin was not significantly different between them (P>0.05).Conclusion: Our results did not show significant difference in presentation of anemia in patients with PKU and normal controls. Screening for anemia among PKU patients and taking supplements is recommended.

Objective: PHENYLKETONURIA (PKU) is one of the most common inherited metabolic diseases, which is classified into classic and non-classic types. It is estimated that 2% of children with PKU develop a severe and progressive neurological disease, called non-classic (malignant) PKU. This study aimed to demonstrate the clinical features, laboratory findings, and diagnostic/therapeutic characteristics of non-classic PKU patients referred to a tertiary referral center for children in Tehran, Iran. Materials & Methods: In this study, background information, such as gender and age, clinical manifestations, laboratory findings, and response rate to conventional treatment, was investigated in patients with non-classic PKU, who were referred to Mofid Children’ s Hospital in Tehran, Iran, through neonatal screening. Results: Twenty patients with a diagnosis of non-classic PKU were included in this study. The mean age of the patients was 6. 00± 2. 81 years (range: 2-12 years), and 45. 0% were male. In patients with a late diagnosis, the most common presentations were motor developmental delay (15. 0%), skin and cutaneous manifestations (15. 0%), seizure (5. 0%), and restlessness (5. 0%). The overall response rate to treatment was 85. 0%. Factors that predict good response to treatment included female gender, higher neopterin level, and lower age at diagnosis and management. Conclusion: In conclusion, about half of patients with non-classic PKU remain asymptomatic, which is due to early diagnosis via neonatal screening. Also, higher age at diagnosis and treatment, besides low neopterin levels, may be useful as prognostic factors.

Objective: Too much restriction of dietary proteins can cause severe protein malnutrition, which can occur in adjusting the diet for some kinds of aminoacidopathies, urea cycle disorder and organic academia. This report presents the case of a 1.5-year-old boy with history of PHENYLKETONURIA with a three weeks history of erythematous scaly plaques and edema of his extremities; he had a history of similar skin manifestations three months earlier that resolved spontaneously.The patient had been on very restricted phenylalanine diet.Diagnosed with Kwashiorkor, a phenylalanine level of 0.4 mg/dl, the child was hospitalized and put on a special diet and given the appropriate antibiotic; after a few days of treatment his condition improved.We underscore the importance of education for those considering prescription of diet restriction and emphasize the regulation of balanced diet in such patients.