Batten disease is a disease which occurs in children. The symptoms of this disorder include seizures, major loss of motor skills, mental and sight capacity, blindness, and unability to communicate.

This ailment is usually fatal. Batten disease is called after a British doctor who discovered the children’s form of neuronal ceroid lipofuscinosis, a serious form of disorder usually referred to as the Batten illness.

The 3 types of neuronal ceroid lipofuscinosis are classified depending on age-infantile, late infantile, and juvenile, but more accurately classified on specific enzyme which causes the Batten disease. All these classifications have the same main cause: deficiency of a lysosomal enzyme and similar development and outcome, but all genetically different. In infantile and late infantile neuronal ceroid lipofuscinosis, the disorders are brought on by genetic mutations which are inherited in the CLN1 gene, which codes for tripeptidyl peptidase, and in CLN2-for palmitoyl protein.

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The consequence of such mutations is either missing or defective enzymes that leads to lipofuscin accumulation-like fluorescent inclusions in different cell types. To correct this serious defect in children with Batten disease, the enzyme must be delivered to the brain where it may be taken up by the enzyme lacking cells. The Batten disease is also called the Spielmeyer-Vogt-Sjogren-Batten.

This entry was filed under Diseases and Conditions.

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