AI Article Synopsis
- The study reports five patients with alpha-L-iduronidase deficiency who exhibit atypical symptoms, differing from the common Hurler or Scheie syndromes.
- It compares these cases to 28 similar cases found in existing literature, highlighting notable phenotypic variations and familial similarities.
- The paper explores potential reasons for these atypical presentations, suggesting that genetic compounds or different mutations could explain the observations, supported by recent biochemical research findings.
Article Abstract
We present five patients with alpha-L-iduronidase deficiency who do not have the typical Hurler or Scheie phenotypes; they are compared to 28 similarly atypical cases from the literature. Phenotypic differences are pointed out and intrafamilial similarities stressed. Among the various possible explanations for this situation, the existence of genetic compounds seems acceptable for some of the cases, but others seem to be caused by different mutations. The elucidation of these alternative possibilities from recent biochemical research is discussed.
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| http://dx.doi.org/10.1002/ajmg.1320200308 | DOI Listing |
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