Tyrosinemia Type 1: An Overview of Nursing Care

Elizabeth Barnby, DNP, ACNP-BC, RN

Disclosures

Pediatr Nurs. 2014;40(2):61-66. 

In This Article

Diagnosis

Newborn screening for TT1 is performed by tandem mass spectrometry. Tandem mass spectrometry is an accurate way to measure newborn blood spot specimens for the presence of disease markers. Each state mandates a different newborn screening panel for their population of newborns (Howell, 2009). Most states are now using the improved newborn screening test for TT1 that measures succinylacetone (Morrissey, Sunny, Fahim, Lubowski, & Caggana, 2011). Measurement of tyrosine is neither specific nor sensitive for the identification of TT1 (Allard, Grenier, Korson, & Zytkovicz, 2004). Succinylacetone measurement by tandem mass spectrometry is accurate and reliable for diagnosing TT1 in the newborn (Turgeon et al., 2008). Early identification of this life-threatening disease provides an opportunity to intervene prior to symptom onset.

The clinical presentation is complicated. Symptoms can be severe or chronic depending on phenotypic expression of the disease (Nakamura et al., 2007). Some children present with failure to thrive and poor growth, but others have an acute onset of metabolic acidosis, hepa tomegaly, ascites, coagulopathy, and neurologic crisis (Croffie, Gupta, Chong, & Fitzgerald, 2010). Metabolic crisis is precipitated by hypoglycemia.

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