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Article

Saposin B Deficiency With Neurologic and Hepatobiliary Involvement: Two Patients Expanding the Clinical Spectrum.

Journal of child neurology - 1 Aug 2026

Yoldas Celik Merve, Koc Ucar Habibe, Köseci Burcu, Burgac Ezgi

Abstract excerpt

IntroductionSaposin B deficiency is an ultrarare lysosomal disorder caused by biallelic mutations in the PSAP gene. Although it clinically resembles classical arylsulfatase A (ARSA)-deficient metachromatic leukodystrophy (MLD), ARSA activity remains biochemically normal. Fewer than 30 genetically confirmed patients have been reported to date.Patient PresentationWe describe 2 pediatric patients with homozygous...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Leukodystrophy, Metachromatic

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Source

Identifiers

PMID: 41334784
DOI: 10.1177/08830738251398579

Genes

ARSA
PSAP
PMP22

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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