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Article

Biochemical signatures mimicking multiple carboxylase deficiency in children with mutations in MT-ATP6.

Mitochondrion - 1 Jan 2019

Larson Austin A, Balasubramaniam Shanti, Christodoulou John, Burrage Lindsay C, Marom Ronit, Graham Brett H, Diaz George A, Glamuzina Emma, Hauser Natalie, Heese Bryce, Horvath Gabriella, Mattman Andre, van Karnebeek Clara, Lane Rutledge S, Williamson Amy, Estrella Lissette, Van Hove Johan K L, Weisfeld-Adams James D

Abstract excerpt

Elevations of specific acylcarnitines in blood reflect carboxylase deficiencies, and have utility in newborn screening for life-threatening organic acidemias and other inherited metabolic diseases. In this report, we describe a newly-identified association of biochemical features of multiple carboxylase deficiency in individuals harboring mitochondrial DNA (mtDNA) mutations in MT-ATP6 and in whom organic...

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Identifiers

PMID: 29307858
DOI: 10.1016/j.mito.2018.01.001
PMCID: PMC10201920

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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