Background: Alkaptonuria (AKU) is a rare hereditary metabolic disorder that occupies a unique position in the history of medical and biochemical genetics because it was the first human metabolic disorder to be interpreted as genetically determined. This condition is characterized by deficiency of HGAO, an enzyme that is mainly found in hepatocytes. The medical interest in alkaptonuria stems fro...

Introduction: Metabolic syndrome is characterized as, have at least 3 of the following 5 criteria: high waist circumference, high blood pressure, high Triglyceride, low HDL (High Density Lipoprotein), and elevated Fasting Blood Glucose. The International Diabetes Federation estimates that 25% of the world's population has metabolic syndrome. Specially, metabolic syndrome is more prevalence in d...

Idiopathic hyperglycinemia, first discovered by Childs et al.,l is thought to be an inherited metabolic disorder, because of onset of the clinical symptoms and presence of metabolic anomaly in the early period of life and probable familial occurrence of the disorder.1-3 In our preceding studies on this particular disorder,4 the following results were obtained: 1) The fasting serum level of glye...

Autism Spectrum Disorder (ASD), is a neurodevelopmental disorder which accompanied by several health-related challenges. Nutritional and gastrointestinal problems are common among individuals with ASD. Gut microbiota imbalance may be reason of nutritional including food selectivity restricted dietary intake. gut can increase behavioral symptoms the possibility necessity for medication. It has b...

clinical differential diagnosisthe organic acidemias are important in the differential diagnosis of metabolic and neurologic derangement in the neonate and of new-onset neurologic signs in the older child. a-organic aciduriaseveral disorders, not classified as primary disorders of organic acid metabolism, have a characteristic urinary organic acid profile that suggests the appropriate diagnosis...