Evidence map›Paper›PMID 40823510›Full record

ArticleMolecular genetics and metabolism reports2025

Thiamine-responsive maple syrup urine disease missed by newborn screen: A case report.

Jariya Upadia, Grace Noh, Kea Crivelly, Jennifer Smith, Hans C Andersson

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PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular genetics and metabolism reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

What it found

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2 · The registry

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

5 authors.

Jariya UpadiaHayward Genetics Center, Tulane University School of Medicine, New Orleans, LA, United States of America.
Grace NohHayward Genetics Center, Tulane University School of Medicine, New Orleans, LA, United States of America.
Kea CrivellyHayward Genetics Center, Tulane University School of Medicine, New Orleans, LA, United States of America.
Jennifer SmithHayward Genetics Center, Tulane University School of Medicine, New Orleans, LA, United States of America.
Hans C AnderssonHayward Genetics Center, Tulane University School of Medicine, New Orleans, LA, United States of America.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Maple syrup urine disease (MSUD) is a rare autosomal recessive metabolic disorder caused by a deficiency of the branched-chain α-ketoacid dehydrogenase (BCKAD) complex. It is classified into four subtypes: classic, intermediate, intermittent, and thiamine-responsive. We report a case of a female infant who presented with global developmental delay at 8 months of age. Plasma amino acid analysis revealed markedly elevated levels of leucine (1863 μmol/L), isoleucine (790 μmol/L), valine (1011 μmol/L), and alloisoleucine (427 μmol/L). The patient demonstrated marked improvement in biochemical markers, increased tolerance of dietary leucine intake, and developmental progress following thiamine supplementation. This case highlights a novel thiamine-responsive MSUD genotype and emphasizes the importance of recognizing this treatable subtype, the therapeutic potential of high-dose thiamine, and the possibility of false-negative results in newborn screening.

Indexed as

Branched chain α-ketoacid dehydrogenase (BCKAD) complex deficiencyMaple syrup urine disease (MSUD)Thiamine pyrophosphateThiamine-responsive MSUD

Identifiers

PMID40823510
PMCPMC12351175

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