Santavuori-Haltia disease
Definition:
Santavuori-Haltia disease, also known as the infantile neuronal ceroid lipofuscinosis (INCL), is a rare but one of the most lethal inherited neurodegenerative lysosome storage disorders of childhood. Patients are normal at birth but by 2 years of age they manifest complete retinal blindness and by age four they would be brain-dead. It is caused by inactivating mutations in the palmitoyl-protein thioesterase-1 (PPT1) gene.
References:
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[1]. P Santavuori, et al. Infantile type of so-called neuronal ceroid-lipofuscinosis. Dev Med Child Neurol. 1974 Oct;16(5):644-53. [Content Brief]
[2]. Sung-Jo Kim, et al. Palmitoyl-protein thioesterase-1 deficiency leads to the activation of caspase-9 and contributes to rapid neurodegeneration in INCL. Hum Mol Genet. 2006 May 15;15(10):1580-6. [Content Brief]
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