Diagnosis
HT-1.
HT-1 is an extremely rare but treatable hereditary disorder. If untreated, it can cause liver, renal and neurological complications.1 Newborn screening is essential to rapid diagnosis of HT-1, so that treatment can begin prior to significant disease progression, and HT-1 is included in the U.S. Department of Health and Human Services’ Recommended Uniform Screening Panel (RUSP).2 While elevated tyrosine was traditionally used as a diagnostic marker for HT-1, it has been shown not to be sufficiently specific nor sensitive for HT-1 detection and can yield false positive and false negative results.3 Succinylacetone (SUAC) is recognized in the consensus guidelines for diagnosis and treatment of HT-1 as a more sensitive and specific diagnostic marker for the disease, and is recommended as the primary diagnostic marker.4
A 2015 Sobi-sponsored study showed 78% (39 of 50) of states used SUAC as a primary marker for HT-1 newborn screening.5 Updated data presented at the 2019 APHL symposium found that progress had been made, with 92% (46 of 50) of states implementing the use of SUAC for HT-1 detection in 2018. Of the remaining four states still using tyrosine for detection (New Jersey, Maryland, Oklahoma and West Virginia), all said they are attempting to implement SUAC detection tests in the next year.
More information can be found in this press release from Sobi:
Sobi Presents Update on State of Newborn Screening for HT-1 in the United States at APHL 2019 Newborn Screening and Genetic Testing Symposium | Sobi North America (sobi-northamerica.com)
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