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Tyrosinemia Type 1: an Overview of Nursing Care

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Tyrosinemia Type 1: an Overview of Nursing Care Continuing Nursing Education Objectives and instructions for completing the evaluation and statements of disclosure can be found on page 67. Tyrosinemia Type 1: An Overview of Nursing Care Elizabeth Barnby umarylacetoacetate hydrolase (FAH) deficiency or tyrosinemia Tyrosinemia type 1 (TT1) is an inherited metabolic disease that can be fatal when type 1 (TT1) is an inherited not detected early by newborn screening. In the past, children with TT1 had a poor metabolic disease that can prognosis due to organ failure and neurologic crisis during infancy. Recent Fcause neurologic crisis and respiratory improvements in newborn screening have changed the prognosis of affected chil- distress. An inborn error of metabo- dren. Measurement of succinylacetone by tandem mass spectrometry provides lism, TT1 is a rare disease with a early identification and the opportunity to manage TT1 as a chronic disease. worldwide incidence of approximate- Treatment includes genetic counseling, dietary management, pharmacotherapy, ly one to two cases per 100,000 births, metabolic crisis prevention, and whole organ transplant. Nursing care is critical to although in some populations, the successful management when it is based on a clear understanding of the patho- incidence is much higher (Scott, physiology. This overview of nursing care will provide specific recommendations to 2006). It is a life-threatening disorder reduce complications and enhance the quality of life for children with TT1. that is usually fatal before two years of age if not treated effectively. Larochelle et al. (1967) described TT1 in infants TT1 (McHugh et al., 2011; Schunemann The deficiency is caused by a mutation presenting with a painful neurologic et al., 2008). When TT1 is identified on chromosome 15q23-25 (Nyhan, disorder that was associated with by enhanced newborn screening Barshop, & Ozand, 2005; Paradis, ascites, liver failure, failure to thrive, methods, the disease is treatable 1996). The disease is an autosomal coagulopathy, rickets, renal disease, (Turgeon et al., 2008). If not identified recessive disorder that is expressed and a cabbage-like odor. Since first on newborn screening, children with when a child receives the trait or described in the Canadian popula- the disease can present critically ill in mutation from both parents. In the tion, much has been learned about metabolic acidosis. Children with carrier state, the mutation is harmless the disease. In the Saguenay Lac-St. inborn errors of metabolism are iden- but can be passed on to offspring. Jean region of Quebec, Canada, the tified post-mortem when newborn An interruption in the tyrosine incidence is approximately one case screening fails to identify the disease catabolic pathway causes a metabolic per 1846 births (De Braekeleer & in the neonate (Bennett & Rinaldo, gridlock in the human body with Larochelle, 1990; Paradis, 1996). 2001; CDC, 2003; Chace et al., 2001). toxic substances accumulating in tis- There is reliable evidence that inborn Early identification and diagnosis are sues throughout the body. Treatment errors of metabolism contribute to life-saving for these metabolically can prevent the accumulation of these incidence of sudden infant death syn- unstable patients. The pediatric nurse toxic substances. The combination of drome (SIDS), although actual num- needs to understand the pathophysi- improvements in newborn screening bers are difficult to quantify (Bennett ology of the disease and nursing inter- and pharmacotherapy has improved & Rinaldo, 2001; Centers for Disease ventions that will improve patient outcomes (Nobili et al., 2010). Control and Prevention [CDC], 2003; outcomes to successfully intervene. The FAH enzyme at the terminal Hunt & Hauck, 2006). An overview of the pathophysiology end of the tyrosine catabolic pathway Mandatory newborn screening and nursing care will enhance out- is crucial to the breakdown of tyro- saves lives, and diagnostic accuracy comes when applied at the bedside. sine. When it is absent, toxic metabo- improves outcomes for children with lites higher up the pathway accumu- Pathophysiology late and cause disease (Scott, King, & Trahms, 2008). Occasionally, a sponta- Elizabeth Barnby, DNP, ACNP-BC, RN, is a TT1 is characterized by the child’s neous mutation can occur that pro- Clinical Assistant Professor and Under - inability to break down tyrosine. duces pockets of normal enzyme activ- graduate Program Director, University of Tyrosine is an essential amino acid ity, and this produces variable pheno- Alabama Huntsville, Huntsville, AL. contained in protein that the body typic expression (Nakamura, Tanaka, Acknowledgment: This work would not have needs to perform cellular functions. Mitsubuchi, & Endo, 2007). Because been possible without the wise guidance of Normally, the enzyme fumarylace- phenotypic expression varies, two Dr. Karen Frith. toacetate hydrolase (FAH) catalyzes children with the exact same chromo- Statements of Disclosure: Please see page tyrosine, but children with TT1 have a somal mutation can have varying 67 for statements of disclosure. deficiency of this essential enzyme. degrees of disease severity. PEDIATRIC NURSING/March-April 2014/Vol. 40/No. 2 61 Tyrosinemia Type 1: An Overview of Nursing Care FAH deficiency leads to an accu- Treatment ness. Succinylacetone inhibits conver- mulation of fumarylacetoacetate, sion of Delta-aminolevulinic acid to maleylacetoacetate, succinylacetoace- Children with TT1 must main- porphobilinogen in the heme synthe- tone, and succinylacetone. Maley - tain strict metabolic control of their sis pathway. Delta-aminolevulinic lacetoacetate causes renal tubular dys- disease. Parents play a key role in acid is neurotoxic. The symptoms are function in a Fanconi-like syndrome metabolic control by maintaining similar to the symptoms of porphyria. of renal failure and vitamin D-resist- dietary restriction of protein con- Lead is also an inhibitor of the con- ant rickets (Jacobs, van Beurden, sumption and avoidance of protein version of Delta-aminolevulinic acid. Klomp, Berger, & van den Berg, 2006). catabolism (Ashorn, Pitkanen, Salo, & Inhibition of the pathway causes neu- Fumarylacetoacetate and maleylace- Heikinheimo, 2006). Typical treat- ropathy, neurologic crisis, paralysis, toacetate cause hepatocyte injury that ment requires intensive developmen- and respiratory distress (Mitchell et can result in end stage liver disease, tally appropriate patient and family al., 1990). Mental retardation and bleeding, and hepatocellular carcino- education. An age-appropriate guide seizure disorders have also been ma (Orejuela, Jorquera, Bergeron, is useful to address these educational reported in children with errors in the Finegold, & Tanguay, 2008). Succiny - needs (see Table 1). metabolism of tyrosine (Palmer, 2006; lacetone is an inhibitor of the heme Avoiding protein catabolism is Rocha et al., 2000). With careful med- synthesis pathway, causing neurotox- difficult in the presence of an acute ical management and nursing care, icity that is similar to lead poisoning viral illness. When unable to eat, the this complication is preventable. The or aminolevulinic acid dehydratase body naturally breaks down protein ability to prevent neurologic deficits (ALAD) deficiency porphyria (Wyllie stores to maintain homeostasis. The offers financial and ethical incentive & Hyams, 2006). The neurotoxicity breakdown of protein causes the level to maintain high quality newborn can cause muscle paralysis and respi- of amino acid tyrosine to rise and screening for the disease (Bailey, ratory arrest (Krous, 2010; Turgeon et results in a metabolic crisis (Claudius, Skinner, & Warren, 2005). al., 2008). Fluharty, & Boles, 2005). Neurologic crisis is preventable if During fasting, the body pro- the family is educated and health care Diagnosis duces ketones. Urine ketones can be providers respond appropriately to used as a metabolic indicator of pro- the metabolic crisis. The most impor- Newborn screening for TT1 is tein catabolism. Ketones are a break- tant way to prevent neurologic crisis performed by tandem mass spectrom- down product of fatty acid metabo- is prompt administration of IV glu- etry. Tandem mass spectrometry is an lism. Ketones in the urine should be cose solutions, usually 10% or higher accurate way to measure newborn managed as an emergency. When depending on severity of symptoms blood spot specimens for the presence ketotic, it is essential for the child to and serum glucose measurement. of disease markers. Each state man- consume glucose to prevent protein Arterial blood gas measurement with dates a different newborn screening catabolism (Claudius et al., 2005). If calculation of anion gap can indicate panel for their population of new- the child is unable, intravenous ther- severity of metabolic acidosis. A writ- borns (Howell, 2009). Most states are apy can prevent complications associ- ten plan is advised for the family to now using the improved newborn ated with increased tyrosine levels. An have with them in the event of an screening test for TT1 that measures antiemetic may be ordered if nausea emergency. The written emergency succinylacetone (Morrissey, Sunny, and vomiting are present. Anti - plan can advise providers of treat- Fahim, Lubowski, & Caggana, 2011). emetics can also be prescribed as ment plans and how to contact med- Measurement of tyrosine is neither needed to prevent future episodes of ical genetics experts for consultation. specific nor sensitive for the identifi- ketosis and adverse outcomes
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