Bot Detector
IJPC Seal
Download FREE Sample Issue or Article
LEARN MORE
Subscribe Today
A subscription to IJPC includes a print copy delivered by postal mail and on-line access to electronic PDF copies of your subscribed issues.

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
View All Articles in Issue

Page(s):  316-319

Download in electronic PDF format for $65

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.

Related Keywords: Bethany Bramwell, BS Pharm, RPh, tetrahydrobiopterin deficiency, BH4, primary phenylketonuria, phenylalanine accumulation, newborn infant, neonate, genetic inborn errors of metabolism, PKU, neurologic disorders, cognitive deficits, metabolic disorder, nitric oxide, dopamine, serotonin, carbidopa, levodopa, 5-hydroxytryptophan, 5-HTP, folinic acid, saptropterin dihydrochloride, selegiline hydrochloride, neurotransmitters, formulations, leucovorin

Related Categories: FORMULATIONS, MENTAL HEALTH, NUTRITION AND NUTRICEUTICALS, PEDIATRICS, NEUROLOGY

Printer-Friendly Version



Related Articles from IJPC
Title/Author
(Click for Abstract / Details)
Issue/​Page
View/Buy
Folinic Acid, L-DOPA, and 5-hydroxytryptophan in Tetrahydrobiopterin Deficiency: Treatment Plan for a Pediatric Patient
Bramwell Bethany
Jul/Aug 2011
Pg. 316-319

Buy
Attention Deficit Hyperactivity Disorder
Allen Loyd V Jr
Mar/Apr 1997
Pg. 87-89

Buy
Methylphenidate in the Treatment of Attention Deficit Disorders
Tenreiro Kim
Jan/Feb 2001
Pg. 21-22

Buy
The Clinical Use of Dehydroepiandrosterone in Postmenopausal Women
Bramwell Bethany L
Nov/Dec 2010
Pg. 465-471

Buy
Compounding Pearls--Wound Care: Drugs and Formulations for Dermal Healing, Part 3: The Roles of Nitric Oxide, Sildenafil, and Naltrexone
Riepl Mike
Sep/Oct 2021
Pg. 372-377

Buy
Skin Disorders in Horses; Case Report: Tripelennamine in the Treatment of Skin Disorders in Horses
Williams LaVonn A
, Fokken Dawn
Sep/Oct 2009
Pg. 386-389

Buy
Emerging Evidence for Androgen Replacement Therapy in Aging Men
Bramwell Bethany L
Mar/Apr 2010
Pg. 94-99

Buy
Compliance to Treatment in Elderly Dysphagic Patients: Potential Benefits of Alternate Dosage Forms
Bramwell Bethany L
Nov/Dec 2009
Pg. 498-505

Buy
Basics of Compounding for Disorders of the External Ear
Allen Loyd V Jr
Jan/Feb 2004
Pg. 46-48

Buy
Compounded Analgesic Therapy for Disorders of Movement: Arthritis, Neuropathic Pain, and Postpolio Syndrome
Brown Scott
, Erickson Brian, Muller George, Bryant-Snure Susan J, Mestayer Richard F III
May/Jun 2010
Pg. 182-192

Buy
Particle Measuring Systems - USP <797> Environmental Monitoring Solutions