Clinical and Genetic Studies in Cases of Phenylketonuria (pku) and a Report of Follow up after Dietary Therapy
نویسندگان
چکیده
A report is made of cases of phenylketonuria detected at Bangalore along with experiences in the dietary therapy and management of the cases. The need for early detection and early dietary intervention is indicated.
منابع مشابه
Epidemiology and clinical study of phenylketonuria (PKU) patients in Khorasan Province; Norteast Iran
Epidemiology and clinical study of phenylketonuria (PKU) patients in Khorasan Province; Norteast Iran Background: Phenylketonuria is an autosomal recessive disease. Early diagnosis is a important public health intervention to prevent neurological impairment .This study was designed to describe characteristics of phenylketonouria patients in Khorasan ,Northeast of Iran. Methods: We included all ...
متن کاملIdentifying Variable Number of Tandem Repeat Alleles in Phenylalanine Hydroxylase Gene in Patients with Phenylketonuria in Golestan Province, Iran
Background and Objective: Phenylketonuria (PKU) is a metabolic disorder that is caused by mutations in the phenylalanine hydroxylase (PAH) gene. The multiplicity of mutations in the PAH gene of PKU leads to the cases, in which the pathogenic mutation cannot be detected. In these cases, the variable number of tandem repeat (VNTR), which is the polymorphic marker associated with the PAH gene, is ...
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متن کاملکم خونی میکروسیتیک در کودکان PKU در تهران
Sixty-nine children with phenylketonuria (PKU) under coverage of Tehran Genetic Research andConsultation Center, fed Lofenalac and Phenylfree were studied. The 24-hour dietary recall method was usedto determine food intake and blood samples were analyzed for iron parameters. The results showed that over7% of the children had a low intake of energy, protein and iron. In addition, hemoglobin and ...
متن کاملCharacteristics of patients with phenylketonuria in Mazandaran Province, northern, Iran
Background: Phenylketonuria (PKU) is an autosomal recessive disease of Phenylalanine metabolism that brings deficiency of the enzyme Phenylalanine Hydroxylase (PAH). Early diagnosis is very important to prevent complications. This study was designed to describe characteristics of patients with phenylketonuria in Mazandaran Province in northern Iran. Methods: We studied 24 cases suffering from P...
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