The Brain is vulnerable to numerous insults that can act in the pre-, peri-, and post-natal
period. There is growing evidence that demonstrate how oxidative stress (OS) could …

Organic acidemias (OAs) are inherited metabolic disorders caused by deficiency of
enzymatic activities in the catabolism of amino acids, carbohydrates, or lipids. These …

Objective Glutaric aciduria type 1 (GA1) is a rare neurometabolic disorder caused by glutaryl-
CoA dehydrogenase deficiency due to GCDH gene mutations. In this study, the clinical …

Acylcarnitine profile in neonatal hypoxic-ischemic encephalo... : Medicine Acylcarnitine profile
in neonatal hypoxic-ischemic encephalopathy: The value of butyrylcarnitine as a prognostic …

Biochemical phenotyping has been the milestone for diagnosing and managing patients
affected by inborn errors of intermediary metabolism (IEiM); however, identifying the …

Glutaric aciduria type I (GA-I) is a rare autosomal recessive metabolic disorder caused by
deficiency of glutaryl-CoA dehydrogenase (GCDH), leading to an abnormal metabolism of …

ABSTRACT Introduction. Hepatorenal tyrosinemia (HT1) is a treatable, inherited, metabolic
disease characterized by progressive liver failure with pronounced coagulopathy. The aim of …

Objective 5-Oxoprolinuria is a rare inherited metabolic disorder caused by a defective
gamma-glutamyl cycle resulting from mutations in the genes encoding 5-oxoprolinase …

The aim of the present study was to investigate the clinical, biochemical and genetic
mutation characteristics of two cases of late-onset glutaric aciduria type I (GA‑I) in Uighur …

Background and aims: Defective enzymes, cofactors, or transporters of metabolic pathways
cause inherited metabolic disorders (IMDs), a group of genetic disorders. Several IMDs have …