Paula and Bobby
Parents of Lillie
3-Methylglutaconic Aciduria, Type IV; MGCA4
What is 3-Methylglutaconic Aciduria, Type IV; MGCA4?
3-Methylglutaconic Aciduria, Type IV; MGCA4 is a rare disease. It is also known as Mga, Type Iv; Mga4.
NB - see also under "Leigh's disease - ATPase deficiency" for those with TMEM70, ATP12 and ATP5E mutations
This is possibly a new type of 3-methylglutaconic aciduria. The low birth weight infant reported by Chitayat et al., (1992) was floppy and had undescended testes. Development was slow, and at 3 years seizures commenced. At 18 years the male was spastic, but in addition had cerebellar hemisphere hypoplasia on CT scanning. The diagnosis was made by examining the organic acid pattern which showed increased levels of 3-methyl glutaconate and 3-methyl glutarate. Note too that hand wringing and self mutilation were part of the clinical picture. A case presenting with hepatic dysfunction was reported by Broide et al., (1998). He then developed progressive neurological disease and had on MR! symmetrical changes in the basal ganglia (as in Leigh's syndrome). Another 4 patients with Leigh-like features and deafness was reported by Wortmann et al., (2006). - see under MEGDEL syndrome and yet another in siblings by Jareno et al., (2007).
Four further patients were reported by Al-Essa et al., (1999). All were delayed, floppy and failed to thrive. Later they developed a progressive encephalopathy, rigidity, dystonia and choreo-athetosis. They demented and became bedridden. There was marked cerebellar atrophy and severe basal ganglia disease. A case reported by Pantaleoni et al., (2000) was initially thought to have cerebral palsy.
* This information is courtesy of the L M D.
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What gene changes cause 3-Methylglutaconic Aciduria, Type IV; MGCA4?
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 - 250951 (please check the OMIM page for updated information)
The syndrome can be caused by mutations in the following gene/s location/s:
What are the main symptoms of 3-Methylglutaconic Aciduria, Type IV; MGCA4?
The typical symptoms of the syndrome are:
Cryptorchidism, Biventricular hypertrophy, Subvalvular aortic stenosis, Severe global developmental delay, Areflexia, Aplasia/Hypoplasia of the cerebellum, Cataract, Cerebellar dysplasia, Abnormality of retinal pigmentation, Autosomal recessive inheritance, Seizure, Single transverse palmar crease, Neonatal hypotonia, Neonatal respiratory distress, 3-Methylglutaric aciduria, Inguinal hernia, Muscular hypotonia, Thrombocytopenia, Hypertrophic cardiomyopathy, Hypertonia, Cognitive impairment, Global developmental delay, Hearing impairment
How does someone get tested for 3-Methylglutaconic Aciduria, Type IV; MGCA4?
The initial testing for 3-Methylglutaconic Aciduria, Type IV; MGCA4 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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