Abstract
Previous work by others and us suggested that nutritional rickets may have a genetic basis. The present paper attempts to obtain further evidence for the hereditary nature of the disease. Biochemical investigations were performed on 22 rachitic infants before and after treatment and on 23 of their parents. The results obtained were a) increased a-amino-nitrogen excretion was found in 1/3 of the infants a long time after healing of rickets b) in the 9 rachitic infants examined abnormal values of pattern amino-acid excretion were found c) 9 of the parents were found to have abnormally high a-amino-nitrogen excretion, 12 abnormally high phosphorus clearance and 10 abnormally high urine phosphorus-urine creatinine concentration d) all 10 examined parents had raised values of the pattern of aminoacid excretion for 1-7 of the aminoacids e) the comparison of the abnormal excretion of individual aminoacids between infants and parents showed that there is a correspondence between them. Our findings suggest that in some at least cases of nutritional rickets there is a genetic element manifesting itself only under adverse environmental conditions.
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Doxiadis, S., Lapatsanis, P., Karatzas, P. et al. IS NUTRITIONAL RICKETS A HEREDITARY DISEASE?. Pediatr Res 8, 135 (1974). https://doi.org/10.1203/00006450-197402000-00056
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DOI: https://doi.org/10.1203/00006450-197402000-00056