Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Homocystinuria due to methylene tetrahydrofolate reductase (MTHFR) deficiency is a metabolic disorder characterised by neurological manifestations.
class Information
definition_citation
Orphanet
has_age_of_onset
- Infancy
- Neonatal
has_dbxref
- ICD-10:E72.1
- ICD-11:5C63.1
- MedDRA:10070309
- MeSH:C537357
- OMIM:236250
- UMLS:C1856061
has_inheritance
Autosomal recessive
notation
present_in
Worldwide AND has_point_prevalence_range : Unknown
class Relations
Subclass of
Related from
disease-causing germline mutation(s) in