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

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. […] She was diagnosed by whole exome sequencing with the common Ashkenazi Jewish, homozygous p.K42E variants in DHDDS. She was started on Acetazolamide and responded well to the treatment which improved her titubation, tremor, and generalized edema. […] The discovery of the novel phenotype associated with the common p.K42E pathogenic variant in DHDDS expands the spectrum of CDG and further enhances our understanding on the role of DHDDS in glycosylation beyond the retina.