Phenylketonuria is a disease caused by congenital defects in phenylalanine metabolism
that leads to irreversible nerve cell damage. However, its detection in the early days of life …

Background/Objectives. This paper seeks to identify the prevalence of Phenylketonuria
(PKU) in Arab countries, Turkey, and Iran. The study reviewed the existence of …

Abstract Disclaimer: These ACMG Standards and Guidelines are intended as an
educational resource for clinical laboratory geneticists to help them provide quality clinical …

The first patients affected by argininosuccinic aciduria (ASA) were reported 60 years ago.
The clinical presentation was initially described as similar to other urea cycle defects, but …

Abstract Pompe disease (OMIM# 232300), a rare genetic disorder, leads to glycogen
buildup in the body due to an enzyme deficiency, particularly harming the heart and …

Mitochondrial acetoacetyl‐CoA thiolase (T2, encoded by the ACAT1 gene) deficiency is an
inherited disorder of ketone body and isoleucine metabolism. It typically manifests with …

Introduction The association between the BTD genotype and biochemical phenotype
[profound biotinidase deficiency (BD), partial BD or heterozygous activity] is not always …

Abstract Maple Syrup Urine Disease (MSUD, OMIM# 248600) is an autosomal recessive
inborn error of metabolism characterized by elevated branched chain amino acids (BCAA) …

Carnitine-acylcarnitine translocase deficiency (CACTD) is a rare and life-threatening
autosomal recessive disorder of fatty acid β-oxidation (FAO). Most patients with CACTD …

Introduction Biotinidase deficiency (BD), an autosomal recessive disease, is classified into
profound (activity< 10%) or partial BD (activity 10–30%). The most frequent variant in …