objective deficient enzyme activity may cause congenital metabolic defects. these defectsare inherited in an autosomal recessive, autosomal dominant, and x-linkedpatterns. this study was aimed at investigating the occurrence of metabolicdiseases in qazvin province. materials & methods this cross-sectional study was performed on 79,100 children aged 12 years orless between 2000 and 2010. clinica...

The prevalence of metabolic syndrome as well as the occurrence of depressive disorder, which are both connected with increased risk of diabetes mellitus type 2 and cardiovascular diseases, is continually increasing worldwide. These disorders are interconnected at various levels; the genetic one seems to be promising. Contribution of genetic factors to the aetiopathogenesis of depressive disorde...

Background Pediatric nephrolithiasis is a condition the prevalence of which varies geographically with multiple etiologies. The aim of this study was to determine possible concomitant anatomic and metabolic disturbances in children with nephrolithiasis and to answer the questions regarding the role of each metabolic and anatomic abnormality. Materials and Methods Between 2007 and 2015, 1,080 pa...

We have previously described a disorder, normotriglyceridemic abetalipoproteinemia, that is characterized by the virtual absence of plasma low density lipoproteins and complete absence of apoB-100, but with apparently normal secretion of triglyceride-rich lipoproteins containing apoB-48. The patient's plasma lipoproteins were shown on polyacrylamide gels and by antibody mapping to have a new tr...

OBJECTIVE To determine the frequency, presentation and outcome of various inherited metabolic diseases in children presenting in a tertiary care hospital, Lahore, Pakistan. STUDY DESIGN An observational study. PLACE AND DURATION OF STUDY Gastroenterology, Hepatology and Nutrition Department of The Children Hospital and Institute of Child Health, Lahore, from January 2011 to October 2014. ...

Rapid eye movement sleep behaviour disorder has been evaluated using Parkinson's disease-related metabolic network. It is unknown whether this disorder is itself associated with a unique metabolic network. 18F-fluorodeoxyglucose positron emission tomography was performed in 21 patients (age 65.0±5.6 years) with idiopathic rapid eye movement sleep behaviour disorder and 21 age/gender-matched hea...