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Essay: Canavan disease

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  • Published: 7 October 2015*
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Name of the disease is Canavan disease. It has the alternative names such as Canavan-van Bogaert-bertrsnd disease, ASPA deficiency, ASP deficiency, Aminoacylase 2 deficiency. The disease is mainly a hereditary disorder which causes nerve damage with time is gone (US national library of Medicine, 2013).
The disease is mainly caused on the gene ASPA of the Locus 608034 on 17p13.2 the chromosome location. The disease is given the number for the record i.e. MIM number 271900 and it comes in the phenotype mapping key 3.
It can be said that the parents of the affected child are obligate heterozygotes, and because of that they both contain the single copy of disease causing mutation in ASPA. There is only 25% chances of having the disease on the child as gene for the disease is recessive so it occurs only in the homozygous condition such as when the two recessive genes combines together, while in the heterozygous is the carrier of the gene but doesn’t show any characteristics (Matalon & Michals-Matalon, 1999).
Canavan disease is caused mainly because of lack or insufficiency of an enzyme asparto acylase (ASPA) which catalyse the hydrolysis of N-acetylaspartic acid (NAA) into aspartate and acetate. Till date 20 different types of mutations have been observed in the ASPA enzyme (Erik A Sistermans, 2000). Basically the enzyme is found in the nerve cells of brain. Because of the mutation NAA don’t breakdown properly; this leads to the imbalance in the myelin formation and also the NAA creates problem for the nerve cells. Nerve fibres die without the protective malfunction, damage the brain and serious problems arise and it can be seen as symptoms (canavan disease, 2008).
It is an autosomal recessive lethal neurodegenerative disorder. Atonia of neck muscles, low muscle tone (hypotonia), hyperextension of the legs and flexion of arms, several mental defects. Neuropathologic changes include spongy degeneration and astrocytic of normal neurons (McKusick, 1986). Urinary NAA excretion almost 200 times then the normal ones. Spongy degeneration of the brain tissue was observed. It was also noted that the NAA is not elevated in the other forms of leukodystrophy. The disease was also observed in homocystinuria (McKusick, 1986).
It is caused by the inherited genetic abnormality the insufficiency of the enzyme causes the deterioration of the white matter. Canavan disease is very common in the people of Ashkenazi Jewish ancestry. It is found that the ratio of the disease in Ashkenazi people is 1: 40 (Matalon & Michals-Matalon, 1999). For the three different alleles the carrier rate was almost 1:58 and 1:57 (Matalon & Michals-Matalon, 1999).It was also found in other ethical group. In the recent era the child who born with the disease can’t be said for sure that it is from the same heritage of Jewish people.
Diagnosis of the disease relies on the higher concentration of the N-acetylaspartic acid in the urine. The concentration of the NAA can be measured with the gas chromatography- mass spectrometry. In neonates/infantile the concentration was found 1440.5??873.3 umol/mmol. In juvenile it was about 106umol/mmol which is low (Matalon & Michals-Matalon, 1999). The NAA can also be measured using the amniotic fluid using the liquid chromatography tandem mass spectrometry. NAA concentration when measured with amniotic fluid it was found 0.3-2.55umol/L : 8.68umol/L in control to affected pregnant woman (Matalon & Michals-Matalon, 1999).
References:
Bibliography
Canavan disease. (2008, January). Retrieved 1 27, 2015, from Genetics Home Reference: http://ghr.nlm.nih.gov/condition/canavan-disease
Erik A Sistermans, R. F. (2000). Mutation detection in the aspartoacylase gene in 17 patients with canavan disease: four new mutations in the non-Jewish populaations. European Journal of Human Genetics, 557-560.
Matalon, R., & Michals-Matalon, K. (1999). canavan disease. In R. Matalon, & K. Michals-Matalon, Gene reviews. washington: University of Washington, Seattle.
McKusick, D. V. (1986, 6 4). Online Mendelian Inheritance in Man. Retrieved January 14, 2015, from www.omim.org: http://www.omim.org/entry/271900?search=271900%20-
US national library of Medicine. (2013, September 19). canavan disease. Retrieved January 28, 2015, from Genetic home reference – National library of Medicine: http://ghr.nlm.nih.gov/condition/canavan-disease

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