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Features include always present findings: Polyneuropathy, Low muscle tone (hypotonia), Muscle weakness, and Motor deterioration and others. 24 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 15 | Seizure, Gait ataxia, Polyneuropathy |
PSAP function has not been fully characterized.
Metachromatic leukodystrophy due to saposin B deficiency is caused by mutations in the PSAP gene on chromosome 10.
Genetic testing for PSAP is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 11 always present features.
No clinical trials have been registered for metachromatic leukodystrophy due to saposin B deficiency.
6 publications have been identified in PubMed for metachromatic leukodystrophy due to saposin B deficiency. Research spans Case Report / Case Series (50%), Review / Meta-Analysis (33%), and Basic Science / Preclinical (17%).
Taha HB (2026). [PMID: 41627451](https://pubmed.ncbi.nlm.nih.gov/41627451/). *Journal of molecular medicine (Berlin, Germany)*. [Review / Meta-Analysis]
Hodul M (2026). [PMID: 41572567](https://pubmed.ncbi.nlm.nih.gov/41572567/). *Journal of neurochemistry*. [Basic Science / Preclinical]
Hassan AO (2026). [PMID: 41777990](https://pubmed.ncbi.nlm.nih.gov/41777990/). *Cureus*. [Case Report / Case Series]
Yoldas Celik M (2025). [PMID: 41334784](https://pubmed.ncbi.nlm.nih.gov/41334784/). *Journal of child neurology*. [Case Report / Case Series]
Asbreuk MABC (2025). [PMID: 40577679](https://pubmed.ncbi.nlm.nih.gov/40577679/). *Neurology*. [Case Report / Case Series]
Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 8:43 AM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
3 |
Low muscle tone (hypotonia), Muscle weakness, Loss of ambulation |
Kidneys and urinary system | 1 | Urinary incontinence |
Digestive system | 1 | Difficulty swallowing (dysphagia) |
Lab test results | 1 | Increased CSF protein concentration |
Li X (2025). [PMID: 40801564](https://pubmed.ncbi.nlm.nih.gov/40801564/). *Cells*. [Review / Meta-Analysis]
AI-curated news mentioning metachromatic leukodystrophy due to saposin B deficiency
Updated Feb 6, 2026
The article discusses the potential of lentiviral-based gene therapy for treating rare genetic diseases affecting the brain and spinal cord, including X-linked adrenoleukodystrophy, metachromatic leukodystrophy, and mucopolysaccharidoses. It highlights the aim of improving enzyme bioavailability and correcting neuropathological phenotypes.