Abstract

Folinic Acid, L-DOPA, and 5-hydroxytryptophan in Tetrahydrobiopterin Deficiency: Treatment Plan for a Pediatric Patient

Author(s): Bramwell Bethany

Issue: Jul/Aug 2011 - Volume 15, Number 4

Page(s): 316-319

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Abstract

The incidence of primary phenylketonuria in the U.S. is approximately 1 in 15,000 births. It is most common in whites, occurring in approximately 1 in 10,000 newborns. Tetrahydrobiopterin deficiency represents 1.5% to 2% of phenylketonuria cases, affecting approximately 1 in 1 million newborns. Most children with tetrahydrobiopterin deficiency are normal at birth, but, as phenylalanine accumulates, the child slowly develops cognitive and motor signs and symptoms resulting in severe mental retardation. In addition to intellectual disability, if untreated, progressive problems with development, movement disorders, difficulty swallowing, seizures, behavioral problems, and an inability to control body temperature will develop. Diagnosis and treatment is essential as early in life as possible to prevent irreversible neurological damage. If appropriate treatment is initiated in the first days of life, all manifestations of the disease can be prevented and patients can reach adult age with good outcomes.

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