A rare inborn error of metabolism characterized by increased concentrations of sarcosine in plasma and urine due to sarcosine dehydrogenase deficiency. The condition is considered benign and not associated with any specific clinical phenotype. Mode of inheritance is autosomal recessive.
Synonyms: Sarcosine dehydrogenase complex deficiency
This is just here as a test because I lose it
Term information
database cross reference
- ICD-10:E72.5 (Inclusion term (The ORPHA code is included under a ICD10 category and has not its own code))
- UMLS:C0268563 (E (Exact mapping: the two concepts are equivalent))
- MeSH:C537236 (E (Exact mapping: the two concepts are equivalent))
- ICD-10:E72.5 (NTBT (ORPHA code's Narrower Term maps to a Broader Term))
- MedDRA:10059299 (E (Exact mapping: the two concepts are equivalent))
- OMIM:268900 (E (Exact mapping: the two concepts are equivalent))
Term relations
Subclass of:
- disease
- present_in some Specific population and has_birth_prevalence_range some 1-9 / 100 000 and has_birth_prevalence_average_value value 2.3
- has_inheritance some autosomal recessive
- present_in some United States and has_birth_prevalence_range some 1-9 / 1 000 000 and has_birth_prevalence_average_value value 0.28
- present_in some Worldwide and has_birth_prevalence_range some 1-9 / 100 000 and has_birth_prevalence_average_value value 2.0
- present_in some Worldwide and has_point_prevalence_range some 1-9 / 100 000
- has_age_of_onset some all ages
- part_of some Disorder of serine or glycine metabolism