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Summary
CYSTINOSIS, ADULT NONNEPHROPATHIC
CYSTINOSIS, OCULAR NONNEPHROPATHIC
219750
OMIM = Online Medalian Inheritance of Men
411641
17p13
test
rare(1:100000)
autosomal recessive
3 different types:
- infantile nephropathic (219800) -> most frequent form
- adult nonnephropathic (219750)
nephropathic cystinosis:
- early onset: 6-18 months
- late onset: 4-26 years
nonnnephropathic cystinosis:
- late onset, adult, benign
symptoms
corneal deposits
onset, adulthood
photophobia or photosensitive defect in light-exposed area
laboratory finding
Literature
Ngu LHet al.Biochemical profiling in two siblings with mitochondrial 2-methylacetoacetyl-CoA thiolase deficiencyMalays J Pathol302109-1142008