Dallin - Still No Test for OTC Deficiency 2013

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Dallin - previously healthy 10 year old male

7th Generation
Descendant of Edwin Wright Earl

Birth: 2003
OTC symptoms diagnosed 2013
Living with OTC

Still No Test for OTC Deficiency

In 2003, 2 days after birth, Dallin passed routine PKU and metabolic newborn screening tests, designed in part to find Ornithine Transcarbamylase Deficiency in infants.

Starting in 2010 Dallin began to present with stomach aches which were often followed by nausea. These episodes were misdiagnosed as a virus or a sensitive stomach.

In 2012 Dallin’s parents began to notice he was having increased cravings for sugary drinks and snacks.

In July of 2013 Dallin’s family moved to Saint George, UT where he continued to practice for little league football.

In September of 2013 Dallin ate a steak dinner for his 10th birthday and began to feel ill a few days later. While still not feeling well, Dallin insisted on attending several days of rigorous football practice in 100 degree heat. Six days later he was airlifted from Saint George, UT to Primary Children’s hospital in Salt Lake city, UT, with symptoms that included “silly” behavior, confusion, dilated pupils, and delirium.

Dallin’s symptoms were attributed to an allergic reaction or drug overdose to anti-nausea medications he had been been given at home; results showed only small traces of these drugs.

Because of his thrashing, banging his head, uncontrollable behavior, and seizures, his parents requested hospital staff sedate Dallin. Dallin was moved to PICU but before Dallin was sedated an intern suggested testing his ammonia levels based on a recent OTC deficiency lecture presented by Dr. Longo, Metabolic Clinic, U of U.

High ammonia levels of 357 discovered and treated with dialysis and Buphenyl/Ammunol.

A metabolic/genetic team including Doctor Ashley Warnock and Ashley Andrews from the University of Utah confirmed Dallin’s symptoms were caused by and Ornithine Transcarbamylase Deficiency and explained that it was a rare X-linked genetic disorder.

Immediate family members were non-symptomatic. However, research of extended family members reveals several generations of relatives living with symptoms of OTC deficiency, who had multiple OTC crisis, or had died from high ammonia levels.

Dallin initially tested negative for Ornithine Transcarbamylase Deficiency but based on his symptoms he was diagnosed with Late-Onset OTC Deficiency in spite of the negative OTC test results. Dallin’s metabolic team attributed his hyperammonemia crisis to two major events. First, a large protein load which left him nauseated. Second, his participation in strenuous exercise. The combination of the two factors left Dallin dehydrated and without enough calories.

2014 Dallin and his mother participated in Late-Onset OTC clinical study at George Washington University Hospital in Washington DC under the care of Dr. Andrea Gropman

Living with OTC deficiency, Dallin follows a recommended treatment protocol that includes an ammonia scavenger medication, a low protein/high calorie diet supplement by essential amino acids, regular monitoring of ammonia levels though blood tests, and consultation with the U of Ut Metabolic Clinic.’

Because Dallin had tested negative for OTC, it became evident that additional genetic tests from other family members with OTC were needed to find the location of our family’s specific gene mutation.