sarcosinemia
MONDO:0010008Mondo
Findings
No curated finding names sarcosinemia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Sarcosinemia is a metabolic disorder characterized by an increased concentration of sarcosine in plasma and urine due to sarcosine dehydrogenase deficiency.
Definition from the Mondo Disease Ontology (MONDO:0010008), read 2026-09-29. CC BY 4.0.
Features
22 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- HypersarcosinemiaHPOHP:0010896
- Obligate (100% of cases)
- HypersarcosinuriaHPOHP:0010897
- Very frequent (80% to 99% of cases)
- Abnormality of movementHPOHP:0100022
- Occasional (5% to 29% of cases)
- AtaxiaHPOHP:0001251
- Occasional (5% to 29% of cases)
- Bilateral tonic-clonic seizureHPOHP:0002069
- Occasional (5% to 29% of cases)
- Congenital blindnessHPOHP:0007875
- Occasional (5% to 29% of cases)
- DyslexiaHPOHP:0010522
- Occasional (5% to 29% of cases)
- Emotional labilityHPOHP:0000712
- Occasional (5% to 29% of cases)
- Floppy infantHPOHP:0008947
- Occasional (5% to 29% of cases)
- Global developmental delayHPOHP:0001263
- Occasional (5% to 29% of cases)
- Hypertrophic cardiomyopathyHPOHP:0001639
- Occasional (5% to 29% of cases)
- Infantile sensorineural hearing impairmentHPOHP:0008610
- Occasional (5% to 29% of cases)
Show the remaining 10
- Loss of speechHPOHP:0002371
- Occasional (5% to 29% of cases)
- Mild intellectual disabilityHPOHP:0001256
- Occasional (5% to 29% of cases)
- Motor delayHPOHP:0001270
- Occasional (5% to 29% of cases)
- Optic atrophyHPOHP:0000648
- Occasional (5% to 29% of cases)
- Peroneal muscle weaknessHPOHP:0011727
- Occasional (5% to 29% of cases)
- Poor speechHPOHP:0002465
- Occasional (5% to 29% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SARDHHGNC:10536
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · ClinGen · Autosomal recessive · 2026
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2019
Where it sits
- A kind of