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1.
IJMS-Iranian Journal of Medical Sciences. 2011; 36 (1): 65-66
in English | IMEMR | ID: emr-130992
2.
Iranian Journal of Pediatrics. 2010; 20 (2): 216-220
in English | IMEMR | ID: emr-98847

ABSTRACT

Phenylalanine hydroxylase or its cofactor, tetrahydrobiopterin [BH[4], deficiency causes accumulation of phenylalanine in body fluids and central nervous system. Considering the fact that hyperphenylalaninemia is a preventable cause of mental retardation in infants, the objective of this study was to determine the incidence of congenital hyperphenylalaninemia in Pars province, south of Iran. In a period of one year from November 2007 to November 2008 blood samples were withdrawn from all newborns born in Pars province for measurement of serum phenylalanine. The samples with a serum level of >/= 2 mg/dl were referred to pediatric endocrine clinic for confirmation and determination of the type of hyperphenylalaninemia by quantitive serum phenylalanine measurements by using High-Pressure liquid chromatography [HPLC] method. Nine out of 76966 newborns had a serum phenylalanine level >/= 2mg/dl, of which 8 cases were confirmed by HPLC. The incidence of the disease was 1:10000. The incidence of mild hyperphenylalaninemia and phenylketonuria [PKU] among the patients was 62.5% and 37.5% respectively and the incidence of BH4 deficiency was 1/76966. These findings indicate a high incidence of hyperphenylalaninemia, in the newborns from Pars province. The high incidence makes a comprehensive screening program "for management of the disease necessary


Subject(s)
Humans , Infant, Newborn , Male , Female , Incidence , Cross-Sectional Studies , Phenylalanine/blood , Mass Screening
3.
Pakistan Journal of Medical Sciences. 2007; 23 (3): 429-431
in English | IMEMR | ID: emr-163802

ABSTRACT

To evaluate the state of iodine uptake and frequency of goiter in a previously endemic population after use of iodine salt for ten years. In an area in south of Iran following examination of randomly selected 1504, 8-10 year school children, 102 cases with grade 2 or larger goiter were found. One hundred normal cases regarding thyroid examination were also selected as controls. From all 202 children, random urine specimen was assayed for iodine as an indicator of iodide intake. Frequency of goiter grade 2 or larger was 6.8%. Median levels of urinary iodine in goiterous children and controls were 20.00 micro g/dL and 24.50 micro g/dL respectively. Values more than 10 micro g/dL indicate sufficient intake. Frequency of iodine deficiency in patients with goiter was 14.0% vs. 12.7% in control group. There was no statistically significant difference between the two groups [P value=0.748]. Iodized salt has been effective to provide acceptable iodide intake but other causes are supposed to be responsible as etiologic factors for persistence of endemic goiter

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