3-methylglutaconic aciduria type 8
MONDO:0044723Mondo
Findings
No curated finding names 3-methylglutaconic aciduria type 8 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Death in infancy · Neonatal onset · Neonatal death
HPO, annotations 2026-09-02
Features
19 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.
- 3-Methylglutaconic aciduriaHPOHP:0003535
- 5 of 5 reported patients
- 3-Methylglutaric aciduriaHPOHP:0003344
- 5 of 5 reported patients
- Elevated brain lactate level by MRSHPOHP:0012707
- 1 of 1 reported patient
- Failure to thriveHPOHP:0001508
- 5 of 5 reported patients
- Feeding difficultiesHPOHP:0011968
- 5 of 5 reported patients
- Respiratory failureHPOHP:0002878
- 4 of 5 reported patients
- SeizureHPOHP:0001250
- 2 of 5 reported patients
- BradycardiaHPOHP:0001662
- 1 of 5 reported patients
- CataractHPOHP:0000518
- 1 of 5 reported patients
- ClonusHPOHP:0002169
- 1 of 5 reported patients
- DysphagiaHPOHP:0002015
- 1 of 5 reported patients
- HypopneaHPOHP:0040213
- 1 of 5 reported patients
Show the remaining 7
- HypotoniaHPOHP:0001252
- 1 of 5 reported patients
- JaundiceHPOHP:0000952
- 1 of 5 reported patients
- Neonatal hypoglycemiaHPOHP:0001998
- 1 of 5 reported patients
- Patent ductus arteriosusHPOHP:0001643
- 1 of 5 reported patients
- Respiratory arrestHPOHP:0005943
- 1 of 5 reported patients
- TremorHPOHP:0001337
- 1 of 5 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.
- HTRA2HGNC:14348
- Definitive · ClinGen · Autosomal recessive · 2022
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · G2P · Autosomal recessive · 2026
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
4 names
Resolves to: 3-methylglutaconic aciduria type 8
- Also called
- 3-methylglutaconic aciduria, type VIII3-methylglutaconic aciduria, type VIII; MGCA8MGA8MGCA8