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6-pyruvoyl tetrahydropterin synthase deficiency: a case report.
Southeast Asian J Trop Med Public Health. 2003; 34 Suppl 3:186-8.SA

Abstract

A 5 day old girl screened positive for hyperphenylalaninemia on routine newborn screening. Initial diagnostic work-up showed elevated blood phenylalanine of 1100 mmol/L and low tyrosine. Limited protein diet and phenylalanine-free formula were prescribed. Further investigation revealed a defect in biopterin metabolism. Urine had no detectable biopterin (BH4) and an elevated level of neopterin at 24.31 mmol/mole Cr. Enzymatic assay showed zero level of 6-pyruvoyl tetrahydropterin synthase. The activity in the mother was 3.5 or 19.9% of controls consistent with heterozygosity. The concentrations of 5-hydroxyindoleacetic acid and homovanillic acid in the cerebrospinal fluid were below the reference ranges. A treatment regimen of BH4 tablets, 5 hydroxytryptophan and DOPA was initiated. The diagnostic evaluation, management and follow-up of patients with this disorder will be outlined. This is the first reported case of a Filipino with a defect in biopterin metabolism.

Authors+Show Affiliations

Department of Pediatrics, Section of Endocrinology and Metabolic Disorders, University of the Philippines-Philippine General Hospital, Manila.No affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

15906733

Citation

Capistrano-Estrada, Sylvia B., and William L. Nyhan. "6-pyruvoyl Tetrahydropterin Synthase Deficiency: a Case Report." The Southeast Asian Journal of Tropical Medicine and Public Health, vol. 34 Suppl 3, 2003, pp. 186-8.
Capistrano-Estrada SB, Nyhan WL. 6-pyruvoyl tetrahydropterin synthase deficiency: a case report. Southeast Asian J Trop Med Public Health. 2003;34 Suppl 3:186-8.
Capistrano-Estrada, S. B., & Nyhan, W. L. (2003). 6-pyruvoyl tetrahydropterin synthase deficiency: a case report. The Southeast Asian Journal of Tropical Medicine and Public Health, 34 Suppl 3, 186-8.
Capistrano-Estrada SB, Nyhan WL. 6-pyruvoyl Tetrahydropterin Synthase Deficiency: a Case Report. Southeast Asian J Trop Med Public Health. 2003;34 Suppl 3:186-8. PubMed PMID: 15906733.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - 6-pyruvoyl tetrahydropterin synthase deficiency: a case report. AU - Capistrano-Estrada,Sylvia B, AU - Nyhan,William L, PY - 2005/5/24/pubmed PY - 2005/7/2/medline PY - 2005/5/24/entrez SP - 186 EP - 8 JF - The Southeast Asian journal of tropical medicine and public health JO - Southeast Asian J Trop Med Public Health VL - 34 Suppl 3 N2 - A 5 day old girl screened positive for hyperphenylalaninemia on routine newborn screening. Initial diagnostic work-up showed elevated blood phenylalanine of 1100 mmol/L and low tyrosine. Limited protein diet and phenylalanine-free formula were prescribed. Further investigation revealed a defect in biopterin metabolism. Urine had no detectable biopterin (BH4) and an elevated level of neopterin at 24.31 mmol/mole Cr. Enzymatic assay showed zero level of 6-pyruvoyl tetrahydropterin synthase. The activity in the mother was 3.5 or 19.9% of controls consistent with heterozygosity. The concentrations of 5-hydroxyindoleacetic acid and homovanillic acid in the cerebrospinal fluid were below the reference ranges. A treatment regimen of BH4 tablets, 5 hydroxytryptophan and DOPA was initiated. The diagnostic evaluation, management and follow-up of patients with this disorder will be outlined. This is the first reported case of a Filipino with a defect in biopterin metabolism. SN - 0125-1562 UR - https://wwww.unboundmedicine.com/medline/citation/15906733/6_pyruvoyl_tetrahydropterin_synthase_deficiency:_a_case_report_ DB - PRIME DP - Unbound Medicine ER -