Not otherwise specified 3-MGA-uria type
Alternate names[edit | edit source]
3 alpha methylglutaconic aciduria type IV; 3 methylglutaconic aciduria type IV
Definition[edit | edit source]
3-methylglutaconic aciduria (3-MGA) type IV, or unclassified 3-MGA, is a clinically heterogeneous disorder characterised by increased 3-methylglutaconic acid excretion in individuals that cannot be classified as having one of the other forms of 3-MGA (3-MGA I, II or III).
Epidemiology[edit | edit source]
The prevalence of this disorder is unknown.
Cause[edit | edit source]
The cause remains unknown, unlike patients with 3-MGA type I, individuals with 3MGA type IV display normal 3-methylglutaconyl-CoA hydratase activity in cultured fibroblasts. Mitochondrial respiratory chain abnormalities have been detected in some 3MGA type IV patients but the clinical heterogeneity associated with this disorder suggests that the 3-methylglutaconic aciduria seen in 3-MGA type IV patients may result from a variety of causes and genetic factors.
Inheritance[edit | edit source]
The disorder has been reported to be inherited as an autosomal recessive trait.
Signs and symptoms[edit | edit source]
- Patients usually present during the first year of life with neurological findings including psychomotor retardation, hypotonia, developmental delay, seizures and progressive spasticity, together with severe failure to thrive.
- Cardiomyopathy, hepatic dysfunction, eye anomalies, microcephaly, deafness, dysmorphism, neonatal hypoglycaemia, thrombocytopaenia and lactic acidosis have also been reported.
- Cerebellar dysgenesis may be revealed by magnetic resonance imaging. In contrast, a small number of asymptomatic patients have been diagnosed as having 3-MGA type IV.
For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms
- 3-Methylglutaconic aciduria
- Failure to thrive(Faltering weight)
- Global developmental delay
- Intellectual disability(Mental deficiency)
- Muscular hypotonia(Low or weak muscle tone)
- Seizure
- Spasticity(Involuntary muscle stiffness, contraction, or spasm)
30%-79% of people have these symptoms
- Dysgenesis of the cerebellar vermis
5%-29% of people have these symptoms
- Cardiomyopathy(Disease of the heart muscle)
- Cataract(Clouding of the lens of the eye)
- Decreased liver function(Liver dysfunction)
- Hearing impairment(Deafness)
- Hypoglycemia(Low blood sugar)
- Iris [[hypopigmentation](Light eye color)
- Lactic acidosis(Increased lactate in body)
- Microcephaly(Abnormally small skull)
- Thrombocytopenia(Low platelet count)
Diagnosis[edit | edit source]
3-methylglutaconic aciduria can be diagnosed by analysis of urinary organic acid excretion but specific diagnosis of 3-MGA type IV requires exclusion of all other forms of 3-MGA. As the genetic factors responsible for the other forms of 3-MGA have now been determined, molecular analysis provides a valuable tool for accurate diagnosis.
Treatment[edit | edit source]
At present there is no effective treatment for 3-MGA type IV and a leucine-restricted diet appears to be of no benefit.
Prognosis[edit | edit source]
The prognosis depends on the clinical phenotype but the neurological complications can be severe with a potentially fatal disease course.
NIH genetic and rare disease info[edit source]
Not otherwise specified 3-MGA-uria type is a rare disease.
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