fumarase deficiency

Term ID

DOID:0111261

Synonyms

• FMRD
• fumaric aciduria

Definition

An amino acid metabolic disorder characterized by metabolic acidosis, elevated levels of fumaric acid in the urine, early-onset hypotonia, profound psychomotor retardation, and brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in FH on 1q43. (2)

References

• GARD:6476
• MESH:C538191
• OMIM:606812
• ORDO:24
• SNOMEDCT_US_2023_03_01:237983002
• UMLS_CUI:C0342770
• UMLS_CUI:C2936826

Ontology

Human Disease   ( DOID:0111261 )