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A Deep Clinical and Biochemical Characterization of a Patient With Combined Malonic and Methylmalonic Aciduria (CMAMMA)

ABSTRACT Combined malonic and methylmalonic aciduria (CMAMMA) is an inborn error of metabolism caused by a deficiency in mitochondrial malonyl‐CoA synthetase, the enzyme responsible for activating malonic acid (MA) to malonyl‐CoA, a precursor of lipoic acid. The clinical phenotype is highly heteroge...

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Principais autores: Vincenza Gragnaniello, Alfonso Galderisi, Sara Tucci, Mara Doimo, Marianna Caterino, Christian Loro, Chiara Cazzorla, Margherita Ruoppolo, Leonardo Salviati, Alberto B. Burlina
Format: Artigo
Sprog:Inglês
Udgivet: Wiley 2025-11-01
Serier:JIMD Reports
Fag:
ACSF3 gene
CMAMMA
hyperinsulinism
hypoglycemia
newborn screening
urinary organic acids
Online adgang:https://doi.org/10.1002/jmd2.70045
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