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Article

A new case of malonic aciduria with a presymptomatic diagnosis and an early treatment.

Brain & development - 1 Aug 2013

Celato Andrea, Mitola Chiara, Tolve Manuela, Giannini Maria Teresa, De Leo Sabrina, Carducci Claudia, Carducci Carla, Leuzzi Vincenzo

Abstract excerpt

Malonyl-CoA decarboxylase deficiency (MLYCD) is a rare autosomal recessive inborn error of metabolism presenting a variable clinical phenotype. We report an affected Italian male receiving an early diagnosis (8days after birth) and a timely dietary therapy (high carbohydrate, low long chain fatty acid and medium chain triglyceride supplemented diet with l-carnitine supplementation). The boy was born at term and...

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Source

Identifiers

PMID: 23177061
DOI: 10.1016/j.braindev.2012.10.014

Genes

MLYCD

Variants

Provenance

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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