Acetazolamide treatment in late onset CDG type 1 due to biallelic pathogenic DHDDS variants.

ABSTRACT: Pathogenic variants in DHDDS have been associated with either autosomal recessive retinitis pigmentosa or DHDDS-CDG. Heterozygous variants in DHDDS have been described in patients with a progressive neurodegenerative disease. Here we report on an individual presenting with a multisystem CDG phenotype who was diagnosed with known homozygous pathogenic DHDDS variants, previously associated with isolated retinitis pigmentosa. An adult Ashkenazi Jewish female developed multiple symptoms of late onset type 1 CDG including seizures, ataxia, protein losing enteropathy, tremor, and titubation in association with elevated mono-oligo/di-oligo transferrin ratio in blood, and classic retinitis pigmentosa. She was diagnosed by whole exome sequencing with the common Ashkenazi Jewish

SUBMITTER: Mousa J 

PROVIDER: S-EPMC9421445 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature