FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term sarcosinemia ID (Ontology) DOID:0112307 (Human Disease)
Definition An amino acid metabolic disorder characterized by increased concentrations of sarcosine in plasma and urine that has_material_basis_in homozygous or compound heterozygous mutation in the SARDH gene on chromosome 9q34.2.
Also Known As "demethylation defect of N-methylglycine" ; "SARCOS" ; "sarcosine dehydrogenase complex deficiency" (for all, see Synonyms field below)
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 Genes
 sarcosinemia       1
 for disease ribbon | sarcosinemia       1
 model of | sarcosinemia       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease____
inherited metabolic disorder       |
 |__amino acid metabolic disorder__|
                                   sarcosinemia  1 rec.
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Is a autosomal recessive disease
amino acid metabolic disorder
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Synonyms
  • "demethylation defect of N-methylglycine" EXACT
    "SARCOS" EXACT OMO:0003012
    "sarcosine dehydrogenase complex deficiency" EXACT
    "SARD deficiency" EXACT
    "SARDH deficiency" EXACT
Secondary IDs
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GARD:158
ICD10CM:E72.59
MEDDRA:10059299
MESH:C537236
MIM:268900
ORDO:3129
SNOMEDCT_US_2023_03_01:64852002
UMLS_CUI:C0268563