A Case of High Pulmonary Hypertension Associated with Methylmalonic Aciduria and Homocystinuria in a Young Child

Résumé fourni par la source

This article describes a case of severe pulmonary hypertension in a 3-year-old boy with postmortem detection of pathogenic heterozygous variants of the MMACHC gene, which are associated with methylmalonic aciduria and homocystinuria. Awareness and timely diagnosis of this rare disorder, along with correction of metabolic disturbances associated with defects in intracellular vitamin B12 metabolism, can improve outcomes, leading to complete or partial remission of pulmonary hypertension.

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