Long-term therapy with NTBC and tyrosine-restricted diet in a murine model of hereditary tyrosinemia type I.
Newborn screening for hepatorenal tyrosinemia by tandem mass spectrometry: Analysis of succinylacetone extracted from dried blood spots.
Liver transplan tation for hereditary tyrosinemia type I: Analysis of the UNOS database.
Current strategies for the treatment of hereditary tyrosinemia type I.
Neurologic crises in hereditary tyrosinemia. N Engl J Med 1990; 322: 432-7.
Hereditary tyrosinemia type 1 from a single center in Egypt: clinical study of 22 cases.
Recent publications of tandem mass spectrometry (MS/MS) methods for measuring SUAC concentrations in dried blood spot (DBS) specimens (7-11) have presented practical protocols for NBS for tyrosinemia type I, and NBS laboratories worldwide are implementing these and other protocols (12, 13).
In 2008, NSQAP began development of a SUAC QA program to support laboratories that perform NBS tests for tyrosinemia type I.
Laboratories are evaluated on how successfully they use their quantitative results to classify PT specimens as "within limits" and "outside limits." Three of the 33 participating laboratories submitted a total of 4 false-negative misclassifications for tyrosinemia type I that were associated with reported low quantitative SUAC values.
Through QA services and technical consultation, methods for detecting asymptomatic newborns with tyrosinemia type I should continue to improve.
This metabolism may be abnormal regardless of whether a metabolic disease is present, e.g., liver disease or tyrosinemia. Detection of a high tyrosine concentration is important to the healthcare provider but not to a state-mandated newborn-screening program that is interested solely in detecting an inherited metabolic disease.
Spectrophotometric microassay for delta-aminolevulinate dehydratase in dried-blood spots as confirmation for hereditary tyrosinemia type 1.
Transient tyrosinemia presenting as lactic acidosis in a term baby: report of one case.