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Article

Severe pulmonary arterial hypertension in congenital sideroblastic anemia from PUS1 mutation - a case report.

BMC medical genomics - 15 Aug 2024

Kothari Shyam S, Shah Jayal, Sharma Vishal, Charaniya Riyaz, Parikh Rujuta, Vaniawala Salil N

Abstract excerpt

BACKGROUND: Myopathy, lactic acidosis and inherited sideroblastic anemia (MLASA) are a group of rare intriguing disorders with wider pathophysiological implications. One of the causes of MLASA is the mutation in PUS1 gene that encodes for pseudouridine synthase. This PUS1 mutation results in MLASA in which anemia and myopathy predominate. Severe pulmonary arterial hypertension has not been previously reported in...

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Identifiers

PMID: 39148116
DOI: 10.1186/s12920-024-01983-8
PMCID: PMC11325830

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