Saposin B Deficiency With Neurologic and Hepatobiliary Involvement: Two Patients Expanding the Clinical Spectrum
Published online on December 03, 2025
Abstract
Journal of Child Neurology, Ahead of Print.
IntroductionSaposin B deficiency is an ultrarare lysosomal disorder caused by biallelic mutations in thePSAPgene. Although it clinically resembles classical arylsulfatase A (ARSA)–deficient metachromatic leukodystrophy (MLD), ARSA activity remains ...
IntroductionSaposin B deficiency is an ultrarare lysosomal disorder caused by biallelic mutations in thePSAPgene. Although it clinically resembles classical arylsulfatase A (ARSA)–deficient metachromatic leukodystrophy (MLD), ARSA activity remains ...