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Article

Maternal riboflavin deficiency, resulting in transient neonatal-onset glutaric aciduria Type 2, is caused by a microdeletion in the riboflavin transporter gene GPR172B.

Human mutation - 1 Jan 2011

Ho Gladys, Yonezawa Atsushi, Masuda Satohiro, Inui Ken-ichi, Sim Keow G, Carpenter Kevin, Olsen Rikke K J, Mitchell John J, Rhead William J, Peters Gregory, Christodoulou John

Abstract excerpt

Riboflavin, or vitamin B2, is a precursor to flavin adenine dinucleotide (FAD) and flavin mononucleotide (FMN) molecules, required in biological oxidation-reduction reactions. We previously reported a case of a newborn female who had clinical and biochemical features of multiple acyl-CoA dehydrog...

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Identifiers

PMID: 21089064
DOI: 10.1002/humu.21399

Genes

MADD
RFT1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-21089064-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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