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Article

Compound heterozygous missense mutations in a Chinese mucopolysaccharidosis type VI patient: a case report.

BMC ophthalmology - 13 May 2021

He Ming-Fang, Yang Ji, Dong Meng-Jie, Wang Yin-Ting, Liu Hai

Abstract excerpt

BACKGROUND: Mucopolysaccharidosis type VI (MPS VI) is a rare autosomal recessive inherited disease caused by mutations in the arylsulfatase B (ARSB) gene. MPS VI is a multisystemic disease resulting from a deficiency in arylsulfatase B causing an accumulation of glycosaminoglycans in the tissues and organs of the body. In this report, we present the case of a 16-year-old Chinese male who presented with vision...

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PMID: 33985463
DOI: 10.1186/s12886-021-01979-3
PMCID: PMC8120710

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