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Article

Cobalamin C defect-hemolytic uremic syndrome caused by new mutation in MMACHC.

Pediatrics international : official journal of the Japan Pediatric Society - 1 Aug 2016

Adrovic Amra, Canpolat Nur, Caliskan Salim, Sever Lale, Kıykım Ertugrul, Agbas Ayse, Baumgartner Matthias R

Abstract excerpt

Atypical hemolytic uremic syndrome (aHUS) is mostly linked to defects in the regulation of alternative complement pathway, but a rare form is caused by an inherited defect of cobalamin 1 metabolism. Cobalamin C (cblC) deficiency is an autosomal recessive disorder of vitamin B12 metabolism that results from mutations in methylmalonic aciduria and homocysteinuria (MMACHC). The most severe form of cblC deficiency...

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Source

Identifiers

PMID: 27324188
DOI: 10.1111/ped.12953

Genes

MMACHC

Provenance

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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