Glutaric Acidemia Type-1: A Metabolic Challenge

Muhammad Usman Munir; Monaza Batool; Muhammad Qaiser Alam Khan; Nisar Ahmed

doi:10.51253/pafmj.v75i5.10686

Authors

Muhammad Usman Munir Department of Chemical Pathology and Endocrinology, Armed Forces Institute of Pathology/National University of Medical Sciences (NUMS), Rawalpindi Pakistan
Monaza Batool Department of Chemical Pathology and Endocrinology, Armed Forces Institute of Pathology/National University of Medical Sciences (NUMS), Rawalpindi Pakistan
Muhammad Qaiser Alam Khan Department of Chemical Pathology and Endocrinology, Armed Forces Institute of Pathology/National University of Medical Sciences (NUMS), Rawalpindi Pakistan
Nisar Ahmed Department of Chemical Pathology and Endocrinology, Armed Forces Institute of Pathology/National University of Medical Sciences (NUMS), Rawalpindi Pakistan

DOI:

https://doi.org/10.51253/pafmj.v75i5.10686

Keywords:

Glutaric Acidemia type-1; Inherited Metabolic disorders; GCDH genes

Abstract

Glutaric Acidemia Type-1 (GA-1) is characterized by glutaryl-CoA dehydrogenase (GCDH) impairment. This enzyme deficit causes harmful metabolites, particularly glutaric acid, to accumulate in affected persons' tissues and fluids. We report a case series of four patients in our study with complaints of macrocephaly, poor head holding, and gross developmental delay. On the biochemical analysis, they had elevated levels of GA in urine organic acid level which confirmed the presence of GA type-1.

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