3-Methylglutaconic Aciduria, type I; MGCA1

What is 3-Methylglutaconic Aciduria, type I; MGCA1?

3-Methylglutaconic Aciduria, type I; MGCA1 is a rare disease. It is also known as 3-methylglutaconyl-coa Hydratase Deficiency 3-mg-coa-hydratase Deficiency Mga, Type I; Mga1.

This is a relatively benign condition manifesting with delayed speech development and macrocephaly. There may be some motor delay and symptomatic hypoglycaemia. The patient reported by Illsinger et al., (2004) presented with fever-associated epilepsy. Increased amounts of 3-methylglutaconic acid can be demonstrated in the urine and the enzyme 3-methylglutaconyl-CoA hydratase has been demonstrated to be deficient. Another patient with speech delay as the presenting sign was reported by Ensenauer et al., (2000).
Ijlst et al., (2002) showed that 3-methylglutaconyl-CoA hydratase is encoded by the AUH gene, an AU-specific RNA-binding protein. Mutation analysis of AUH in two patients revealed a nonsense mutation (R197X) and a splice-site mutation (IVS8-1G-->A).
Tavasoli et al. (2017) described a 3.5 years old male patient from consanguineous family with 3-methylglutaconic aciduria and a novel homozygous mutation in the AUH gene. At age of 22 months, the patient had central hypotonia and intention tremor. He walked a few steps with the help of parents and spoke just a few words. He also had moderate sensorineural hearing loss. Brain MRI at the age of two years showed delayed myelination in trigone region and nonspecific hypersignal intensities in centrum semiovale. Urine organic acid analysis revealed high level of 3-methylglutaconic and 3-hydroxyisovaleric acids. Acylcarnitine profile showed increased level of 3-hydroxyisovalerylcarnitine. The patient was treated with restricted leucine diet (60 mg/kg/day) and carnitine (100 mg/kg/day in three doses). At the age of 3.5 years, the patient was able to walk, he had only some incoordination during running, the speech and cognition were normal. Brain MRI showed improvement of myelination in trigone area.

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* This information is courtesy of the L M D.

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What gene changes cause 3-Methylglutaconic Aciduria, type I; MGCA1?

The syndrome is inherited in the following inheritance pattern/s:

Autosomal Recessive - Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms but have a 25% chance of passing the copies of the gene mutations onto each of their children.


In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation that occurs during the reproductive process.

OMIM Number - 250950 (please check the OMIM page for updated information)

The syndrome can be caused by mutations in the following gene/s location/s:
AUH - 9q22.31

What are the main symptoms of 3-Methylglutaconic Aciduria, type I; MGCA1?

The typical symptoms of the syndrome are:
Optic atrophy, Autosomal recessive inheritance, Seizure, Short attention span, 3-Methylglutaconic aciduria, Metabolic acidosis, Leukoencephalopathy, Hypoglycemia, Hemiplegia/hemiparesis, Hepatomegaly, Delayed speech and language development, Global developmental delay, Cognitive impairment, Hyperreflexia, Microcephaly, Spastic tetraplegia, Phenotypic variability, Infantile onset, Urinary incontinence, Cerebral atrophy, Ataxia, Athetosis, Febrile seizure (within the age range of 3 months to 6 years), Failure to thrive, Motor delay, Dystonia, Dysarthria

How does someone get tested for 3-Methylglutaconic Aciduria, type I; MGCA1?

The initial testing for 3-Methylglutaconic Aciduria, type I; MGCA1 can begin with facial genetic analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the type of genetic testing needed. A consultation with a genetic counselor and then a geneticist will follow.

Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.

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