Table 1.
Diagnosis of cystinosis by measuring cystine levels.
Normal | ≤0.2 nmol hemicystine/mg protein |
Nephropathic cystinosis | 5.0–23.0 nmol hemicystine/mg protein |
Non-nephropathic cystinosis | 1.0–3.0 nmol hemicystine/mg protein |
Heterozygous carrier | ≤1.0 nmol hemicystine/mg protein |
Target levels for treated nephropathic cystinosis | <0.5–1.0 nmol hemicystin/mg protein |