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Inherited human collagen lysyl hydroxylase deficiency: ascorbic acid response
The Journal of Pediatrics
|March 1, 1978
Summary
This study details a patient with connective tissue issues due to low hydroxylysine. Vitamin C therapy improved symptoms but not skin hydroxylysine levels, suggesting a complex collagen synthesis disorder.
Area of Science:
- Biochemistry
- Genetics
- Dermatology
Background:
- Congenital hypotonia, joint laxity, and fragile skin indicate potential connective tissue disorders.
- Reduced collagen hydroxylysine content is linked to impaired collagen cross-linking and tissue integrity.
- Lysyl hydroxylase deficiency affects collagen structure and function.