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What is aspartoacylase deficiency also called?
Canavan disease is also called aspartoacylase deficiency
What happens when aspartoacylase is decreased?
When the body produces decreased levels of aspartoacylase, a build-up of NAA results
What is Canavan disease also called?
Canavan disease is also called aspartoacylase deficiency
What breaks down N-acetylaspartic acid?
Aspartoacylase breaks down N-acetylaspartic acid
What leads to Canavan disease?
It results when the body produces less than normal amounts of a protein called aspartoacylase
Is Canavan disease caused by a mutation?
Yes, Canavan disease is caused by a mutation in the ASPA gene. This gene provides instructions for making an enzyme called aspartoacylase, which is essential for the breakdown of a compound called N-acetylaspartate. Mutations in the ASPA gene lead to the accumulation of N-acetylaspartate in the brain, causing the characteristic features of Canavan disease.
How does gene therapy treat Canavan disease?
The goal of gene therapy is to restore normal amounts of aspartoacylase in the brain and nervous system and prevent the build-up of NAA and the symptoms of Canavan disease
Why is aspartoacylase deficiency bad?
This deficiency ultimately results in progressive damage to the brain and nervous system and causes mental retardation, seizures, tremors , muscle weakness, blindness and an increase in head size
What type of inherited condition is Canavan disease?
Canavan disease, also referred to as spongy degeneration of the CNS, is autosomal recessive, secondary to mutations in the aspartoacylase gene (ASPA). Symptoms typically begin two to four months after birth, with death occurring by 10 years of age
Canavan disease?
DefinitionCanavan disease is an inherited condition that affects the breakdown and use (metabolism) of aspartic acid.Alternative NamesSpongy degeneration of the brain; Aspartoacylase deficiencyCauses, incidence, and risk factorsCanavan disease is passed down (inherited) through families. It is more common among Ashkenazi Jews than in the general population.The lack of the enzyme, aspartoacylase, leads to a buildup of material called N-acetylaspartic acid in the brain. This causes the white matter of the brainto break down (deteriorate).SymptomsSymptoms usually begin in the first year of life. Parents tend to notice when a child is not reaching certain developmental milestones, including head control.Symptoms include:Abnormal posture with flexed arms and straight legsBackflow of food material into the nose (nasal regurgitation)Feeding problemsIncreasing head size (macrocephaly)IrritabilityLack of head control when baby is pulled from a lying to a sitting position (head lag)Poor muscle tone, especially of the neck musclesPoor visual tracking or blindnessReflux with vomitingSeizuresSevere mental retardationSwallowing difficultiesSigns and testsExaggerated reflexes (hyperreflexia)Joint stiffnessLoss of tissue in the optic nerve of the eye (optic atrophy)Tests:Blood chemistryCSF chemistryGenetic testing for aspartoacylase gene mutationsHead CT scanHead MRI scanUrine chemistryTreatmentTreatment aims to ease the symptoms of the disease. There is no specific treatment.Support GroupsAdditional information and resources are available from:Canavan Foundationwww.canavanfoundation.org877-4-CANAVANExpectations (prognosis)With Canavan disease, the central nervous systembreaks down. Patients are likely to become disabled.Death often occurs before 18 months of age. However, some patients live until they are teenagers or, rarely, young adults.ComplicationsThis is often a fatal disorder. It includes severe disabilities such as:BlindnessInability to walkMental retardationCalling your health care providerCall your health care provider if your child has any symptoms of Canavan disease.PreventionGenetic counseling is recommended for people who want to have children and have a family history of Canavan disease. Counseling should be considered if both parents are of Ashkenazi Jewish descent. For this group, DNA testing can almost always tell whether one or both parents is a carrier.A diagnosis may be made before the baby is born (prenatal diagnosis) by testing the amniotic fluid.ReferencesRezvani I. Defects in metabolism of amino acids. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 85.
