BACK TOTOP Browse A-ZSearchBrowse A-ZABCDEFGHIJKLMNOPQRSTUVWXYZ0-9 E-mail FormEmail ResultsName:Email address:Recipients Name:Recipients address:Message: Print-FriendlyBookmarksbookmarks-menuCanavan diseaseSpongy degeneration of the brain; Aspartoacylase deficiency; Canavan - van Bogaert diseaseCanavan disease is a condition that affects how the body breaks down and uses aspartic acid.Aspartic acidAspartic acid is a nonessential amino acid. Amino acids are building blocks of proteins. "Nonessential" means that our bodies produce it, even if we...Read Article Now Book Mark Article Causes Canavan disease is passed down (inherited) through families. It is more common among the Ashkenazi Jewish population 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 brain to break down.White matter of the brainWhite matter is found in the deeper tissues of the brain (subcortical). It contains nerve fibers (axons), which are extensions of nerve cells (neuro...Read Article Now Book Mark Article There are two forms of the disease:Neonatal (infantile) -- This is the most common form. Symptoms are severe. Babies seem to be normal the first few months after birth. By 3 to 5 months, they have developmental problems, such as those mentioned below under the Symptoms section of this article. Juvenile -- This is a less common form. Symptoms are mild. Developmental problems are less severe than those of the neonatal form. In some cases, the symptoms are so mild that they go undiagnosed as Canavan disease. Symptoms Symptoms often begin in the first year of life. Parents tend to notice it when their child is not reaching certain developmental milestones, including head control.Symptoms include:Abnormal posture with flexed arms and straight legs Food material flows back into the nose Feeding problems Increasing head size Irritability Poor muscle tone, especially of the neck muscles Poor muscle toneHypotonia means decreased muscle tone.Read Article Now Book Mark Article A lack of head control when baby is pulled from a lying to a sitting position Poor visual tracking, or blindness Reflux with vomiting RefluxGastroesophageal reflux occurs when stomach contents leak backward from the stomach into the esophagus. This causes "spitting up" in infants....Read Article Now Book Mark Article Seizures Severe intellectual disability Swallowing difficulties Exams and Tests A physical exam may show:Exaggerated reflexes Joint stiffness Loss of tissue in the optic nerve of the eyeTests for this condition include:Blood chemistry CSF chemistry Genetic testing for aspartoacylase gene mutations Head CT scan Head MRI scan Urine or blood chemistry for elevated aspartic acid DNA analysis Treatment There is no specific treatment available. Supportive care is very important to ease the symptoms of the disease. Lithium and gene therapy are being studied. Support Groups More information and support for people with Canavan condition and their families can be found at:National Organization for Rare Disorders -- rarediseases.org/rare-diseases/canavan-disease National Tay-Sachs & Allied Diseases Association -- www.ntsad.org/index.php/the-diseases/canavan Outlook (Prognosis) With Canavan disease, the central nervous system breaks down. People are likely to become disabled.Central nervous systemThe central nervous system is composed of the brain and spinal cord. Your brain and spinal cord serve as the main "processing center" for your entir...Read Article Now Book Mark Article Those with the neonatal form often do not live beyond childhood. Some children may live into their teens. Those with the juvenile form often live a normal lifespan. Possible Complications This disorder may cause severe disabilities such as:Blindness Inability to walk Intellectual disability When to Contact a Medical Professional Call your health care provider if your child has any symptoms of Canavan disease. Prevention Genetic 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 if the parents are carriers.A diagnosis may be made before the baby is born (prenatal diagnosis) by testing the amniotic fluid, the fluid that surrounds the womb.Amniotic fluidAmniotic fluid is a clear, slightly yellowish liquid that surrounds the unborn baby (fetus) during pregnancy. It is contained in the amniotic sac....Read Article Now Book Mark Article Open ReferencesReferencesElitt CM, Volpe JJ. Degenerative disorders of the newborn. In: Volpe JJ, Inder TE, Darras BT, et al, eds. Volpe's Neurology of the Newborn. 6th ed. Philadelphia, PA: Elsevier; 2018:chap 29.Matalon RK, Trapasso JM. Defects in metabolism of amino acids: N-acetylaspartic acid (Canavan disease). In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 103.15.Vanderver A, Wolf NI. Genetic and metabolic disorders of the white matter. In: Swaiman KF, Ashwal S, Ferriero DM, et al, eds. Swaiman's Pediatric Neurology: Principles and Practice. 6th ed. Philadelphia, PA: Elsevier; 2017:chap 99.Wapner RJ, Dugoff L. Prenatal diagnosis of congenital disorders. In: Resnik R, Lockwood CJ, Moore TR, Greene MF, Copel JA, Silver RM, eds. Creasy and Resnik's Maternal-Fetal Medicine: Principles and Practice. 8th ed. Philadelphia, PA: Elsevier; 2019:chap 32.AllVideoImagesTogRelated Information Aspartic acid(Special Topic)White matter of the brain(Special Topic)Autosomal recessive(Special Topic)Enzyme(Special Topic) Review Date: 11/1/2021 Reviewed By: Anna C. Edens Hurst, MD, MS, Associate Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. 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Canavan diseaseSpongy degeneration of the brain; Aspartoacylase deficiency; Canavan - van Bogaert diseaseCanavan disease is a condition that affects how the body breaks down and uses aspartic acid.Aspartic acidAspartic acid is a nonessential amino acid. Amino acids are building blocks of proteins. "Nonessential" means that our bodies produce it, even if we...Read Article Now Book Mark Article Causes Canavan disease is passed down (inherited) through families. It is more common among the Ashkenazi Jewish population 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 brain to break down.White matter of the brainWhite matter is found in the deeper tissues of the brain (subcortical). It contains nerve fibers (axons), which are extensions of nerve cells (neuro...Read Article Now Book Mark Article There are two forms of the disease:Neonatal (infantile) -- This is the most common form. Symptoms are severe. Babies seem to be normal the first few months after birth. By 3 to 5 months, they have developmental problems, such as those mentioned below under the Symptoms section of this article. Juvenile -- This is a less common form. Symptoms are mild. Developmental problems are less severe than those of the neonatal form. In some cases, the symptoms are so mild that they go undiagnosed as Canavan disease. Symptoms Symptoms often begin in the first year of life. Parents tend to notice it when their child is not reaching certain developmental milestones, including head control.Symptoms include:Abnormal posture with flexed arms and straight legs Food material flows back into the nose Feeding problems Increasing head size Irritability Poor muscle tone, especially of the neck muscles Poor muscle toneHypotonia means decreased muscle tone.Read Article Now Book Mark Article A lack of head control when baby is pulled from a lying to a sitting position Poor visual tracking, or blindness Reflux with vomiting RefluxGastroesophageal reflux occurs when stomach contents leak backward from the stomach into the esophagus. This causes "spitting up" in infants....Read Article Now Book Mark Article Seizures Severe intellectual disability Swallowing difficulties Exams and Tests A physical exam may show:Exaggerated reflexes Joint stiffness Loss of tissue in the optic nerve of the eyeTests for this condition include:Blood chemistry CSF chemistry Genetic testing for aspartoacylase gene mutations Head CT scan Head MRI scan Urine or blood chemistry for elevated aspartic acid DNA analysis Treatment There is no specific treatment available. Supportive care is very important to ease the symptoms of the disease. Lithium and gene therapy are being studied. Support Groups More information and support for people with Canavan condition and their families can be found at:National Organization for Rare Disorders -- rarediseases.org/rare-diseases/canavan-disease National Tay-Sachs & Allied Diseases Association -- www.ntsad.org/index.php/the-diseases/canavan Outlook (Prognosis) With Canavan disease, the central nervous system breaks down. People are likely to become disabled.Central nervous systemThe central nervous system is composed of the brain and spinal cord. Your brain and spinal cord serve as the main "processing center" for your entir...Read Article Now Book Mark Article Those with the neonatal form often do not live beyond childhood. Some children may live into their teens. Those with the juvenile form often live a normal lifespan. Possible Complications This disorder may cause severe disabilities such as:Blindness Inability to walk Intellectual disability When to Contact a Medical Professional Call your health care provider if your child has any symptoms of Canavan disease. Prevention Genetic 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 if the parents are carriers.A diagnosis may be made before the baby is born (prenatal diagnosis) by testing the amniotic fluid, the fluid that surrounds the womb.Amniotic fluidAmniotic fluid is a clear, slightly yellowish liquid that surrounds the unborn baby (fetus) during pregnancy. It is contained in the amniotic sac....Read Article Now Book Mark Article Open ReferencesReferencesElitt CM, Volpe JJ. Degenerative disorders of the newborn. In: Volpe JJ, Inder TE, Darras BT, et al, eds. Volpe's Neurology of the Newborn. 6th ed. Philadelphia, PA: Elsevier; 2018:chap 29.Matalon RK, Trapasso JM. Defects in metabolism of amino acids: N-acetylaspartic acid (Canavan disease). In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 103.15.Vanderver A, Wolf NI. Genetic and metabolic disorders of the white matter. In: Swaiman KF, Ashwal S, Ferriero DM, et al, eds. Swaiman's Pediatric Neurology: Principles and Practice. 6th ed. Philadelphia, PA: Elsevier; 2017:chap 99.Wapner RJ, Dugoff L. Prenatal diagnosis of congenital disorders. In: Resnik R, Lockwood CJ, Moore TR, Greene MF, Copel JA, Silver RM, eds. Creasy and Resnik's Maternal-Fetal Medicine: Principles and Practice. 8th ed. Philadelphia, PA: Elsevier; 2019:chap 32.