Background: Transient hyperammonemia of the newborn (THAN) is an overwhelming condition presenting with coma within 2-3 days of life and requiring immediate treatment. The etiology of this condition remains unknown. Duration of coma determines the degree of neurologic impairment and developmental delay in hyperammonemia. Case report: A newborn (BW=2900 g) was presented with a clear prenatal an...

Biotinidase deficiency (BTD) is a rare inherited metabolic disorder with predominant dermatogical and neurological manifestations, which if untreated leads to severe sequelae. Early diagnosis prompt treatment biotin prevents further progression of symptoms resolution cutaneous features. We report an interesting case four half year male child presenting seizures, developmental delay non resolvin...

conclusions this finding may help improve early detection, differential diagnosis, genetic counseling, and even treatment of patients with pku. introduction phenylketonuria (pku) is an autosomal recessive inborn error of phenylalanine metabolism, which is caused by mutation in phenylalanine hydroxylase (pah) gene. most of the pah mutations are missense mutations (67%), which are followed by sma...

Background: Maple syrup urine disease (MSUD) is an inborn error of metabolism resulting from the accumulation leucine, isoleucine and valine. The classic form more common, in which there are neurological signs symptoms, coma, death third or fifth day life. Treatment based on diet liver transplantation.