Tyrosinemia Type 1: An Overview of Nursing Care

Elizabeth Barnby, DNP, ACNP-BC, RN


Pediatr Nurs. 2014;40(2):61-66. 

In This Article

Neurologic Crisis

Neurologic crisis can present as a syndrome of severe pain, paralysis, and respiratory arrest. Neurologic effects of FAH deficiency in TT1 include severe abdominal pain, extremity pain, nausea, vomiting, weakness, and altered level of consciousness. Succinylacetone inhibits conversion of Delta-aminolevulinic acid to porphobilinogen in the heme synthesis pathway. Delta-aminolevulinic acid is neurotoxic. The symptoms are similar to the symptoms of porphyria. Lead is also an inhibitor of the conversion of Delta-aminolevulinic acid. Inhibition of the pathway causes neuropathy, neurologic crisis, paralysis, and respiratory distress (Mitchell et al., 1990). Mental retardation and seizure disorders have also been reported in children with errors in the metabolism of tyrosine (Palmer, 2006; Rocha et al., 2000). With careful medical management and nursing care, this complication is preventable. The ability to prevent neurologic deficits offers financial and ethical incentive to maintain high quality newborn screening for the disease (Bailey, Skinner, & Warren, 2005).

Neurologic crisis is preventable if the family is educated and health care providers respond appropriately to the metabolic crisis. The most important way to prevent neurologic crisis is prompt administration of IV glucose solutions, usually 10% or higher depending on severity of symptoms and serum glucose measurement. Arterial blood gas measurement with calculation of anion gap can indicate severity of metabolic acidosis. A written plan is advised for the family to have with them in the event of an emergency. The written emergency plan can advise providers of treatment plans and how to contact medical genetics experts for consultation. The American College of Emergency Physicians (ACEP) and the American Academy of Pediatrics (AAP) provide an online template that is useful in developing this document (AAP, 2010), which can be accessed online at http://www.aap.org/advocacy/blankform.pdf (ACEP, 2008).