Paula and Bobby
Parents of Lillie
Aldolase A Deficiency
What is Aldolase A Deficiency?
Aldolase A Deficiency is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.
This is the association of a haemolytic anaemia (red cell Aldolase A Deficiency) with a mental retardation/multiple congenital malformation syndrome. The facial features are striking and consist of a flat midface with a low nasal bridge, a marked epicanthus, bilateral ptosis and telangiectasia of the eyelids. The ears are cup-shaped and the hairline is low posteriorly. The penis is small and the testes descended. The first case was a male and was the offspring of first cousins. Hurst et al., (1988) described a brother and sister with similar features. It is possible that the Aldolase A Deficiency is secondary to a haemolytic anaemia of different aetiologies.
* This information is courtesy of the L M D.
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What gene changes cause Aldolase A 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.
The syndrome can be caused by mutations in the following gene/s location/s:
What are the main symptoms of Aldolase A Deficiency?
The typical symptoms of the syndrome are:
How does someone get tested for Aldolase A Deficiency?
The initial testing for Aldolase A 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.
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