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Article

Sanfilippo syndrome type A with acute metabolic acidosis: a case report of the first documented SGSH c.571G > A homozygous mutation.

BMC pediatrics - 26 Feb 2026

Zou Haiying, Yang Li, Qin Yao, Zhang Renlong

Abstract excerpt

BACKGROUND: Mucopolysaccharidosis type III (MPS III, Sanfilippo syndrome) is an autosomal recessive lysosomal storage disorder characterized by progressive central nervous system degeneration and behavioral abnormalities. Type A is caused by a deficiency of SGSH. This case report presents the first documented case of Sanfilippo syndrome type A (MPS IIIA) with a homozygous SGSH c.571G > A mutation, associated with...

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Identifiers

PMID: 41742100
DOI: 10.1186/s12887-026-06621-z
PMCID: PMC13040757

Genes

SGSH

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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