Major congenital metabolic disorders in the first 12 years of life in 79,100 consecutively born children in Qazvin province

Deficient enzyme activity may cause congenital metabolic defects. These defects are inherited in an autosomal recessive, autosomal dominant, and X-linked patterns. This study was aimed at investigating the occurrence of metabolic diseases in Qazvin Province. This cross-sectional study was performed on 79,100 children aged 12 years or less between 2000 and 2010. Clinical manifestations, laboratory findings, and all other essential information were assessed to precisely diagnose the metabolic diseases. The sorted information on congenital metabolic defects of the patients, information included in a checklist, and data were analyzed using SPSS. A total of 57 metabolic disorders were recorded. The difference in the prevalence of metabolic disorders between male [29 cases] and female [28 cases] was not statistically significant. The most frequent congenital metabolic disorder among our patients was phenylketonuria [PKU; 5 per 1,000 cases], and the least common disorder was galactosemia [3 per 1,000 cases]. Timely detection and management of congenital metabolic disorders can help save the affected children. Prenatal screening programs, molecular gene therapy, and counseling for consanguineous marriage can play important roles in reducing the rate of metabolic disorders in this province

[Report of two cases with neonatal diabetes mellitus due to pancreas agenesis]

Neonatal diabetes divided into transient and permanent forms. Pancreatic agenesis is a very rare cause of permanent neonatal diabetes. In this paper, two male patients with neonatal hyperglycemia are reported. They were very sensitive to insulin and malabsorption syndrome gradually appeared in them. The first patient had hyperglycemia on the third day of life and steatorrhea, edema and anemia appeared during first two months. The second one was brought at 10 days of life but her mother had noted to fatty and frequent stools. Anemia and edema appeared during admission. Sonography in the first patient reported normal pancreas and caused delay in diagnosis, but CT-scan was useful for correct diagnosis in the second patient. Hyperglycemia accompanied by insulin sensitivity, malabsorption signs and symptoms, lack of anomalies and low birth weight should be assumed as pancreas agenesis and CT-scan is useful way for diagnosis