Autism spectrum disorder is a neurodevelopmental with heterogeneous presentation, the etiology of which not clearly elucidated. In recent years, comorbidity has become more evident increase in frequency autism and diagnostic possibilities inborn errors metabolism. One hundred seventy-nine patients diagnosis who presented to Pediatric Metabolism outpatient clinic between 01/September/2018-29/Feb...

Recent advances in the diagnosis and treatment of inborn errors of metabolism have improved substantially the prognosis for many of these conditions. This makes it essential that the practicing pediatrician be familiar with the clinical presentation of these disorders. A practical clinical approach to the recognition of inborn errors of metabolism in the young infant is presented in this review...

Cellular purine nucleotides derive mainly from de novo synthesis or nucleic acid turnover and, only marginally, dietary intake. They are subjected to catabolism, eventually forming uric in humans, while bases and nucleosides may be converted back through the salvage pathways. Inborn errors of pathway catabolism have been described by several researchers usually referred as rare diseases. Since ...

Foreign language instruction has been completed through the traditional approach. This investigation was an attempt to show effect of team teaching and counseling psychology with focus on students’ Language Proficiency, Collaboration Inborn Encouragement. Mix method research used for study, comprised tests, questionnaires interviews collect data. 52 Iranian EFL students two English teachers bes...

The study of inborn errors of immunity is based on a comprehensive clinical description of the patient's phenotype and the elucidation of the underlying molecular mechanisms and their genetic etiology. Deciphering the pathogenesis is key to genetic counseling and the development of targeted therapy. This review shows the power of whole-exome sequencing in detecting inborn errors of immunity alo...

Inborn errors of metabolism constitute an important cause of neurological disease in the neonatal period and can present clinically as encephalopathy. Although it is relatively rare, it is important to have a high index of suspicion. Appropriate investigations and a step-wise approach to diagnosis allow for early institution of treatment and can prevent significant morbidity and mortality. The ...

Congenital disorders of glycosylation (CDG) are a rapidly growing group of inborn erros of metabolism with abnormal glycosylation of proteins and lipids. Nearly 70 inborn errors of metabolism have been described due to congenital defects of glycosylation, present as clinical syndromes, affecting multiple systems, impacting nearly every organ. No specific tests are available yet for screening al...

The treatment for inborn errors of liver metabolism is based on dietary, drug, and cell therapies (orthotopic liver transplantation). However, significant morbidity and mortality still remain, and alternative strategies are needed. Gene replacement therapy has the potential of providing a definitive cure for patients with these diseases. Significant progress has been made in the pre-clinical ar...