Schindler disease
Schindler disease | |
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Other names | NAGA deficiency |
Schindler disease is inherited via an autosomal recessive manner | |
Specialty | Endocrinology |
Schindler disease, also known as Kanzaki disease and alpha-N-acetylgalactosaminidase deficiency, is a rare disease found in humans. This
Types
There are three main types of the disease each with its own distinctive symptoms.[4]
Type I: infantile form, infants will develop normally until about a year old. At this time, the affected infant will begin to lose previously acquired skills involving the coordination of physical and mental behaviors. Additional
Type II: adult form, symptoms are milder and may not appear until the individual is in his or her 30s.
Type III: is considered an intermediate disorder. Symptoms vary and can include to be more severe with
Cause
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Diagnosis
Management
Infants with Schindler disease tend to die within four years of birth; therefore, treatment for this form of the disease is mostly
History
Schindler disease was named after Detlev Schindler (born 1946) M.D., the first author of a 1988 paper detailing the disease. It is also named after the Japanese biochemist and physician, Hiro Kanzaki (born 1949), who further studied it and released papers detailing the disease in 2006.[citation needed]
See also
- List of cutaneous conditions
References
- PMID 2243144.
- ^ a b Online Mendelian Inheritance in Man (OMIM): 609241
- S2CID 21567863.
- ^ "Schindler disease". International Advocate for Glycoprotein Storage Diseases. (International Society for Mannosidosis & Related Diseases, ISMRD). Retrieved 2008-11-13.
- ^ "Schindler Disease". National Organization for Rare Disorders (NORD). Retrieved 2008-11-13.
- ^ "Kanzaki disease". Genetic and rare diseases information center. Retrieved 17 April 2018.
Further reading
- Reference, Genetics Home. "Schindler disease". Genetics Home Reference. Retrieved 27 December 2016.