Inborn errors of metabolism as a cause of neurological disease in adults: an approach to investigation.

Inborn errors of metabolism presenting as neonatal encephalopathy: practical tips for clinicians.

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 ...

Recent Technological Advances in Hepatogenic Differentiation of Stem Cells Relevant to Treatment of Liver Diseases

Liver failure, in an acute or chronic form, is a growing health problem ranking as one of the leading causes of death worldwide. Inborn errors of metabolism characterized by defects in hepatic enzymes or other proteins with metabolic functions, such as receptors or transporters accompanied with environmental factors involve etiology and presentation of liver failure. Currently, the only establi...

Selective Screening of Phenylketonuria, Tyrosinemia and Maple Syrup Urine Disease in Southern Iran

Inborn errors of amino-acids metabolism and other inherited Mendeliandisorders are common in the MiddleEast.The number of diagnosed inborn errors of amino acid metabolism is growing constantly on account of and availability and improved of analytical techniques.  The aim of this work was to determine a rough estimate of the incidence rates of phenylketonuria (PKU), tyrosinemia, and maple syrup ...

Inborn Errors of Metabolism in Adults: A Diagnostic Approach to Neurological and Psychiatric Presentations

Developmental delay: when to suspect and how to investigate for an inborn error of metabolism.

The purpose of this review is to provide a practical guideline on the suspicion and investigation of inborn errors of metabolism (IEMs) as cause of developmental delay. Developmental delay is a common paediatric problem. Inborn errors of metabolism are a rare cause of developmental delay. However, it is important to detect IEMs for several reasons: accurate counselling may be given regarding re...