3-methylglutaconic aciduria type 5
MeSH: C565706ORPHA: 66634
Overview
3-methylglutaconic aciduria that has material basis in homozygous mutation in the DNAJC19 gene on chromosome 3q26
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with 3-methylglutaconic aciduria type 5, sourced from HPO and Orphanet clinical annotations.
AtaxiaGrowth delayDilated cardiomyopathyElevated circulating glutaric acid concentration3-Methylglutaconic aciduriaIntrauterine growth retardationProlonged QT intervalIncreased circulating lactate concentrationDelayed gross motor developmentElevated circulating hepatic transaminase concentrationHypochromic microcytic anemiaNormochromic microcytic anemiaNeurodevelopmental delayPerineal hypospadiasOptic atrophySeizureMicrovesicular hepatic steatosisNeonatal hypoglycemiaBilateral cryptorchidismHypoplasia of penisMuscular ventricular septal defectHypothyroidismNeonatal hypotoniaMuscle weaknessDystoniaAbnormal facial shapeLower limb spasticityAction tremorDevelopmental regressionGeneralized amyotrophyBilateral basal ganglia lesionsAtrophy/Degeneration affecting the brainstemBilateral sensorineural hearing impairmentRepetitive compulsive behaviorDiaphragmatic eventrationDyskinesiaArachnoid cyst
Classification & Codes
MeSH Code
C565706Orphanet Code
ORPHA:666343-methylglutaconic aciduria type 5
| MeSH | C565706 |
| Orphanet | ORPHA:66634 |
| Treatments | 0 drug(s) |
| Symptoms on record | 37 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO