fumaric aciduria
Findings
No curated finding names fumaric aciduria yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Fumaric aciduria (FA), an autosomal recessive metabolic disorder, is most often characterized by early onset but non-specific clinical signs: hypotonia, severe psychomotor impairment, convulsions, respiratory distress, feeding difficulties and frequent cerebral malformations, along with a distinctive facies. Some patients present with only moderate intellectual impairment.
Definition from the Mondo Disease Ontology (MONDO:0011730), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Second trimester onset
HPO, annotations 2026-09-02
Features
55 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.
- Agenesis of corpus callosumHPOHP:0001274
- 2 of 2 reported patients
- Decreased fumarate hydratase activityHPOHP:0003536
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Elevated urine fumaric acid levelHPOHP:0034648
- 1 of 1 reported patient
- Occasional (5% to 29% of cases)
- Hepatic failureHPOHP:0001399
- 2 of 2 reported patients
- Increased urine succinate levelHPOHP:0033092
- 1 of 1 reported patient
- Intrahepatic cholestasisHPOHP:0001406
- 2 of 2 reported patients
Show the remaining 43
- Failure to thrive in infancyHPOHP:0001531
- Frequent (30% to 79% of cases)
- Feeding difficulties in infancyHPOHP:0008872
- Frequent (30% to 79% of cases)
- Frontal bossingHPOHP:0002007
- Frequent (30% to 79% of cases)
- Global developmental delayHPOHP:0001263
- Frequent (30% to 79% of cases)
- HypertelorismHPOHP:0000316
- Frequent (30% to 79% of cases)
- HypotoniaHPOHP:0001252
- 1 of 2 reported patients
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.
- FHHGNC:3700
- Definitive · G2P · Autosomal recessive · 2017
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Ambry Genetics · Autosomal recessive · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
1 name
Resolves to: fumaric aciduria
- Also called
- fumarase deficiency