Description:
<jats:p>Two cases of cystine storage disease, both diagnosed during life, are presented. Both cases presented typical symptoms. Cystine crystals were found and needles resembling those of tyrosine could also be found in bone marrow and pus. The level of serum amino acids was normal in both cases. The urine contained increased organic acids, mainly due to an increase in the amino acids, and a normal ammonia content. Post-mortem examination of one patient is reported. Case 2, following treatment with alkali, vitamin D and salt free diet, has shown improvement in weight, rickets, amino aciduria and glycosuria but not in growth, albuminuria and concentrating capacity of the kidneys.</jats:p>