Paula and Bobby
Parents of Lillie
What is Aminoadipic Aciduria?
Aminoadipic Aciduria is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.
About 14 patients with this condition have been reported (Lee et al., 2001). These authors report a Korean female who was born at 34 weeks and had periventricular leukomalacia. At 6 months she was developmentally behind and a marked elevation of plasma alpha-aminoadipate was found in plasma. Of the 14 cases to date 5/14 have been retarded, 3 were floppy and 2 had seizures. The patient reported by Lee et al., (2001) was stiff rather than floppy and her back was hairy.
* This information is courtesy of the L M D.
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What gene changes cause Aminoadipic Aciduria?
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 - 204750 (please check the OMIM page for updated information)
The syndrome can be caused by mutations in the following gene/s location/s:
DHTKD1 - 10p14
What are the main symptoms of Aminoadipic Aciduria?
The typical symptoms of the syndrome are:
Muscular hypotonia, Intellectual disability, mild, Microcephaly, Global developmental delay, Delayed speech and language development, Aminoaciduria, Attention deficit hyperactivity disorder, Autosomal recessive inheritance
How does someone get tested for Aminoadipic Aciduria?
The initial testing for Aminoadipic Aciduria 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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