eMedicine Specialties > Pediatrics: Genetics and Metabolic Disease > Metabolic Diseases
Tetrahydrobiopterin Deficiency: Follow-up
Updated: Jun 5, 2008
Follow-up
Deterrence/Prevention
- Avoid substances containing aspartame.
- Avoid drugs that effect folate metabolism such as methotrexate and trimethoprim-sulfamethoxazole.
Prognosis
- The prognosis for normal intelligence is good with dietary and medical treatment.
- Nontreatment and treatment failure are associated with neurologic and cognitive dysfunction.
- Treatment is not always successful.
Patient Education
- Teach parents how to administer the diet, medications, and supplements at home, and involve all caregivers.
- Children should begin involvement in their dietary and medical planning as soon as they are developmentally ready.
Miscellaneous
Medicolegal Pitfalls
- Misdiagnosis of the condition as PKU with subsequent neurologic impairment
- Failure to recognize that screening may have been performed too soon (eg, before 12-24 h of life, depending on local standards), leading to a false-negative result
- Failure to avoid drugs that affect folate metabolism, such as trimethoprim-sulfamethoxazole and methotrexate
- Failure to provide adequate energy intake, essential amino acids, vitamins, and minerals
- Failure to monitor for common nutritional deficiencies
Special Concerns
- During pregnancy, levels of pterins can be evaluated in amniotic fluid and in other maternal material to determine if the fetus has a tetrahydrobiopterin (BH4) deficiency.
- Such tests are usually performed only in women who have had children with BH4 deficiency.
More on Tetrahydrobiopterin Deficiency |
| Overview: Tetrahydrobiopterin Deficiency |
| Differential Diagnoses & Workup: Tetrahydrobiopterin Deficiency |
| Treatment & Medication: Tetrahydrobiopterin Deficiency |
Follow-up: Tetrahydrobiopterin Deficiency |
| References |
| « Previous Page |
References
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Further Reading
Keywords
tetrahydrobiopterin deficiency, BH4 deficiency, BH4 deficiency, BH4 D, BH4D, malignant phenylketonuria, malignant PKU, atypical phenylketonuria, atypical PKU, malignant hyperphenylalaninemia, nonphenylketonuria hyperphenylalaninemia, non-phenylketonuria hyperphenylalaninemia, non-PKU hyperphenylalaninemia, HPA, phenylalanine, Phe
Follow-up: Tetrahydrobiopterin Deficiency