Paula and Bobby
Parents of Lillie
Aminoacylase 1 Deficiency
What is Aminoacylase 1 Deficiency?
Aminoacylase 1 Deficiency is a rare disease. It is also known as Aminoacylase I deficiency.
The clinical picture of this condition is characterised by severe intellectual disability, axial hypotonia and limb hypertonia and spasticity. The patient reported by Ferri et al. (2014) had a severe episode of opistotonus. The diagnosis was made bu finding elevated levels of N-acetyl amino acids. and mutations were found in ACY1
* This information is courtesy of the L M D.
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What gene changes cause Aminoacylase 1 Deficiency?
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 - 609924 (please check the OMIM page for updated information)
The syndrome can be caused by mutations in the following gene/s location/s:
ACY1 - 3p21.2
What are the main symptoms of Aminoacylase 1 Deficiency?
The typical symptoms of the syndrome are:
Hypertelorism, Global developmental delay, Hyperactivity, Phenotypic variability, Muscular hypotonia, Muscle weakness, Delayed CNS myelination, Wide nasal bridge, Cerebellar atrophy, Cerebral atrophy, Acute encephalopathy, Autosomal recessive inheritance, Sensorineural hearing impairment, Seizure
How does someone get tested for Aminoacylase 1 Deficiency?
The initial testing for Aminoacylase 1 Deficiency 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.
What is FDNA Telehealth?
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