Clinical and genetic analysis of four Chinese patients with holocarboxylase synthetase deficiency and metabolic acidosis

Abstract Background Holocarboxylase synthetase (HLCS) deficiency is an autosomal recessive organic acidaemia. This paper aimed to describe the clinical, biochemical and molecular features of four Chinese patients with HLCS deficiency, and to research the novel mutation. Methods Tandem mass spectrome...

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Egile Nagusiak:	Zhenzhu Zheng, Weilin Peng, Yiming Lin, Weihua Lin, Gaoxiong Wang
Formatua:	Artigo
Hizkuntza:	Inglês
Argitaratua:	BMC 2025-09-01
Saila:	Orphanet Journal of Rare Diseases
Gaiak:	Holocarboxylase synthetase deficiency Clinical symptoms c.1505A > G c.2159delT
Sarrera elektronikoa:	https://doi.org/10.1186/s13023-025-03723-2
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