Dietary phenylalanine requirements in infants with hyperphenylalaninaemia
نویسندگان
چکیده
منابع مشابه
Population genetics of hyperphenylalaninaemia resulting from phenylalanine hydroxylase deficiency in Portugal.
In order to elucidate the molecular basis of phenylketonuria (PKU) in Portugal, a detailed study of the Portuguese mutant phenylalanine hydroxylase (PAH) genes was performed. A total of 222 mutant alleles from 111 PKU families were analysed for 26 mutations and restriction fragment length polymorphismlvariable number tandem repeat (RFLP/VNTR) haplotypes. It was possible to characterise 55% of t...
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BACKGROUND Associations between genotype and intellectual outcome in patients with phenylketonuria are complicated because intelligence is influenced by many variables, including environmental factors and other genetic determinants. Intellectual changes with age, both on and after relaxation of diet, vary within the patient population. This study aims to determine whether a significant associat...
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The experiment was carried out in poultry experimental station belonging to NRC, Cairo, Egypt. A total of 120 Fayoumi layers, 45 weeks old, were randomly divided into four equal groups. Each group included three replicates (10 hens in each). The first group was fed the control diet containing 3.3% gram Ca, whereas, the other three received diets containing 2.8, 2.6 and 2.4% gram Ca, respectivel...
متن کاملDiagnosis of malignant hyperphenylalaninaemia.
The occurrence of progressive cerebral degeneration in some patients with phenylketonuria (PKU) despite early and adequate dietary control of serum phenylalanine is now well established. The clinical syndrome was clearly described by Smith et al.1 At a conference held in Lausanne, June 1977,2 of groups of people who have written papers on the subject, it was agreed that malignant hyperphenylala...
متن کاملIndividualized long-term outcomes in blood phenylalanine concentrations and dietary phenylalanine tolerance in 11 patients with primary phenylalanine hydroxylase (PAH) deficiency treated with Sapropterin-dihydrochloride.
We analyzed long-term sustainability of improved blood Phenylalanine (Phe) control and changes to dietary Phe tolerance in 11 patients (1 month to 16 years), with various forms of primary PAH deficiency (classic, moderate, severe phenylketonuria [PKU], mild hyperphenylalaninemia [HPA]), who were treated with 15-20mg/kg/d Sapropterin-dihydrochloride during a period of 13-44 months. 7/11 patients...
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ژورنال
عنوان ژورنال: Archives of Disease in Childhood
سال: 1974
ISSN: 0003-9888,1468-2044
DOI: 10.1136/adc.49.10.830