OBJECTIVE To determine the frequency of metabolic abnormalities in the serum and urine of patients with urinary stones disease. METHODS Two hundred patients with either multiple or recurrent urolithiasis diagnosed on ultrasonography and intravenous urography were included in this study. 24 hour urine sample were collected from each patient and sent for PH, specific gravity, Creatinine, uric a...

Inherited metabolic disorders (IMDs) are a class of genetic disorders. Each metabolic disorder may have different forms with different age of onset, clinical manifestations, severity, and even type of inheritance. Ideally, a group of different specialists, including ophthalmologists, pediatricians, biochemists, and medical geneticists are needed for the final diagnosis and management of IMDs. B...

Introduction: Up to 15% of children under the age 15 may have paediatric urolithiasis, which is linked with severe morbidity and high recurrence rates. This condition still a serious urological concern. In 86% 96.1% kids kidney stone disorders, metabolic abnormalities are one most frequent causes urolithiasis. Hypercalciuria, hyperoxaluria, hyperuricosurea, hypocitraturea prevalent disorders. o...

BACKGROUND/AIMS Resting electrocardiogram (ECG) abnormalities have been strongly associated with cardiovascular disease mortality. Little is known, however, about the association between individual components of metabolic syndrome and ECG abnormalities, especially in Asian populations. METHODS We examined clinical and laboratory data from 31,399 subjects (age 20 to 89 years) who underwent med...

OBJECTIVES We sought to study relationship between cardiorespiratory fitness and C-reactive protein (CRP) in subjects with the metabolic syndrome. BACKGROUND Recent studies have shown an association between the metabolic syndrome and chronic subclinical inflammation, as determined by elevated CRP. Cardiorespiratory fitness is associated with a lower risk of diabetes and improved insulin resis...

I-cell disease is a rare inherited metabolic disorder resulting from a defective phosphotransferase, characterized by coarse facial features, skeletal abnormalities and mental retardation. As clinical features of this condition mimic that of Hurler disease mutation studies help in the diagnosis. We present a case of I-cell disease in a neonate with GNPTAB gene mutation.

INTRODUCTION We aimed to identify metabolic and anatomical abnormalities present in children with urinary calculi. MATERIALS AND METHODS Metabolic evaluation was done in 142 pediatric calculus formers. Evaluation included serum biochemistry; measurement of daily excretion of urinary calcium, uric acid, oxalate, citrate, and magnesium (in older children); and measurement of calcium, uric acid,...