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Abstract

January - March 2022 | Vol. 15 | Issue 1 | 06-16
An Overview of the Genetic Basis and Clinical Approach for Peroxisomal Disorders
Dr Gayatri Nerakh
Department of Fetal Medicine and Medical Genetics,Fernandez Foundation, Hyderabad, India
Address for Correspondence Email: maildrgayatri@gmail.com
 
Abstract
Peroxisomal disorders are a rare heterogeneous group of inherited inborn errors of metabolism. Most of the peroxisomal disorders manifest in neonatal, infantile, and childhood periods. There are certain intricacies in diagnosing peroxisomal disorders due to overlapping phenotypes, complex biochemical tests, clinical and genetic heterogeneity. The diagnosis of milder and atypical phenotypes is even more complicated.This article describes the genetics of peroxisomal disorders and provides guidelines for the diagnosis of these disorders in routine clinical practice.
 
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