It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one's chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.
Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.
Autosomal recessive: Autosomal recessive conditions are traits or disorders that occur when two copies of an abnormal gene have been inherited on a non-sex chromosome. If both parents have an autosomal recessive condition, there is a 100% likelihood of passing on the mutated genes to their children. If, however, only one mutant copy of the gene is inherited, the individual will be a carrier of the condition, but will not be present with any symptoms. Children born to two carriers, have a 25% chance of being homozygous dominant (unaffected), a 50% chance of being heterozygous (carrier), and a 25% chance of being homozygous recessive (affected).
Signs and symptoms can vary greatly amongst individuals with Adenylosuccinate Lyase Deficiency. Some of these include:
A diagnosis of Adenylosuccinate Lyase Deficiency would involve:
Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.
Complications due to Adenylosuccinate Lyase Deficiency are commonly noted and may include:
Currently, there are no curative/definitive treatment options for Adenylosuccinate Lyase Deficiency. The treatment measures are taken to improve the quality of life by addressing the variety of signs and symptoms.
The prognosis of individuals with Adenylosuccinate Lyase Deficiency is generally unpredictable and grim. Most individuals die in their early infancy or during childhood.
A defect in the adenlyosuccinate lyase enzyme is detected, if the presence of certain proteins, such as succinylaminoimidazole carboxamide riboside and succinyladenosine, are detected in the cerebrospinal fluid, urine, and blood plasma. Such a positive test indicates a mutation in the ADSL gene. However, DNA testing is the definitive method for diagnosis of Adenylosuccinate Lyase Deficiency.
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