Infantile onset Sandhoff disease: clinical manifestation and a novel common mutation in Thai patients.

ABSTRACT:

Background

Sandhoff disease (SD) is an autosomal recessive lysosomal storage disorder, resulting in accumulation of GM2 ganglioside, particular in neuronal cells. The disorder is caused by deficiency of β-hexosaminidase B (HEX-B), due to pathogenic variant of human HEXB gene.

Method

This study describes clinical features, biochemical, and genetic defects among Thai patients with infantile SD during 2008-2019.

Results

Five unrelated Thai patients presenting with developmental regression, axial hypotonia, seizures, exaggerated startle response to noise, and macular cherry red spot were confirmed to have infantile SD based on deficient HEX enzyme activities and biallelic variants of the HEXB gene. In addition, an uncommon presenting feature, cardiac defect, was observed

SUBMITTER: Tim-Aroon T 

PROVIDER: S-EPMC7789739 | biostudies-literature | 2021 Jan

REPOSITORIES: biostudies-literature