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neurometabolic disorder due to serine deficiency - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

neurometabolic disorder due to serine deficiency

MONDO:0018162

Also known as:serine deficiency

Overview

Serine-deficiency syndrome is a very rare infantile-onset potentially treatable neurometabolic disorder characterized clinically by microcephaly, neurodevelopmental disorders and seizures. Three serine-deficiency syndromes have been described: 3-phosphoglycerate dehydrogenase (3-PGDH) deficiency, 3-phosphoserine phosphatase (3-PSP) deficiency, and phosphoserine aminotransferase deficiency.

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for neurometabolic disorder due to serine deficiency.

16 publications have been identified in PubMed for neurometabolic disorder due to serine deficiency. Research spans Basic Science / Preclinical (81%), Review / Meta-Analysis (6%), and Case Report / Case Series (6%).

Research Type	Count	% of Total
Laboratory research	13	81%

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 4:52 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:35705

GARD

Genetic and Rare Diseases Info Center

GARD:18815

Questions for Your Care Team

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neurometabolic disorder due to serine deficiency

Overview

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Subtypes

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Questions for Your Care Team

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