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Canavan disease

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We were unfortunately unable to download the information for this disease from OMIM.

Prevalence of clinical parameters (%)

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Pubmed id number as a reference Organ system affected
Number of patients in the reference Percent affected patients (Between 0 and 1, eg. 0.1 = 10%)
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List of symptoms

Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Developmental delay nervous 100 % 9568915 2011-12-05
Leukodystrophy nervous 100 % 3354621 2011-12-05
Macrocephaly nervous 92 % 9568915 2011-12-05
Nystagmus nervous 88 % 9568915 2011-12-05
Dysphagia nervous 80 % 9568915 2011-12-05
Seizures nervous 63 % 9568915 2011-12-05
Optic atrophy nervous 58 % 9568915 2011-12-05
Vomiting nervous 47 % 9568915 2011-12-05

List of references:

The clinical course of Canavan disease.
E C Traeger, I Rapin,

Canavan, an autosomal-recessive neurodegenerative disease, is caused by a deficiency of aspartoacylase. Most children are reported to have the infantile form, becoming symptomatic between 3 and 6 months of age, after an unremarkable prenatal and perinatal course. Congenital and juvenile onset forms, although uncommon, do occur. We collected clinical information from the parents of 60 children diagnosed with Canavan disease and reviewed the literature. We conclude that Canavan disease is prenatal in onset with variability in progression. The variable clinical course cannot be explained by genetic heterogeneity but probably depends on environmental factors and/or modifying genes.

Pediatric neurology - Mar 1998

Aspartoacylase deficiency and N-acetylaspartic aciduria in patients with Canavan disease.
R Matalon, K Michals, D Sebesta, M Deanching, P Gashkoff, J Casanova,

An increased amount of N-acetylaspartic acid was found in urine and plasma of three patients, from two families, with the diagnosis of cerebral spongy degeneration (Canavan disease). Aspartoacylase was assayed in cultured skin fibroblasts from one patient of each family and a profound deficiency of this enzyme was found. Although the function of N-acetylaspartic acid is not understood, it is known to occur in high concentration in human brain. The finding of a defect in the metabolism of N-acetylaspartic acid causing progressive spongy degeneration of the brain may lead to a better understanding of the function of this amino acid derivative. The aspartoacylase assay affords a new tool for determining the diagnosis of Canavan disease. Since aspartoacylase activity was present in cultured amniotic cells and chorionic villi, it is likely that the assay for this enzyme can be used for the prenatal diagnosis of Canavan disease.

American journal of medical genetics - Feb 1988

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