Paula and Bobby
Parents of Lillie
3-Methylglutaconic Aciduria - Type Di Rosa
What is 3-Methylglutaconic Aciduria - Type Di Rosa?
3-Methylglutaconic Aciduria - Type Di Rosa is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.
Five unrelated patients had 3-methylglutaconicaciduria, but of a clinically novel type (Di Rosa et al., 2006). Sibs were affected, but had died. Clinically, 3 were microcephalic at birth, and 2 had severe respiratory problems with a metabolic acidosis. One presented a 1 month with status epilepticus and others had mild delay and cataracts. All were subsequently noted to have cataracts, a hypertrophic cardiomyopathy, hypotonia and mental delay (in 3, 2 having died early. An MRI in 4 revealed, cerebellar hypoplasia, a simplified gyral pattern and hypoplasia of the corpus callosum in only 1. 3-metylglutaconyl-CoA hydratase activity was normal.
* This information is courtesy of the L M D.
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What gene changes cause 3-Methylglutaconic Aciduria - Type Di Rosa?
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.
The syndrome can be caused by mutations in the following gene/s location/s:
What are the main symptoms of 3-Methylglutaconic Aciduria - Type Di Rosa?
The typical symptoms of the syndrome are:
How does someone get tested for 3-Methylglutaconic Aciduria - Type Di Rosa?
The initial testing for 3-Methylglutaconic Aciduria - Type Di Rosa 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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