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Article

The second DDOST-CDG patient with lactose intolerance, developmental delay, and situs inversus totalis.

Journal of human genetics - 1 Feb 2022

Pi Shanyu, Gong Jiaoe, Xiao Wenbiao, Xiao Bo, Mao Xiao, Long Hongyu

Abstract excerpt

Congenital disorders of glycosylation (CDGs) are inherited metabolic diseases affecting protein and lipid glycosylation. DDOST-CDG is a rare, newly identified type of CDGs, with only one case reported so far. In this study, we report a Chinese patient with a homozygous pathogenic variant in DDOST (c.1187G>A) and who presented with feeding difficulty, lactose intolerance, facial dysmorphism, failure to thrive,...

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PMID: 34462534
DOI: 10.1038/s10038-021-00974-2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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