6-pyruvoyl tetrahydropterin synthase deficiency: a case report.
Southeast Asian J Trop Med Public Health
;
2003 ; 34 Suppl 3(): 186-8
Article
in English
| IMSEAR
| ID: sea-33294
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.
Full text:
Available
Index:
IMSEAR (South-East Asia)
Main subject:
Phenylketonurias
/
Biopterins
/
Female
/
Humans
/
Infant, Newborn
/
Dihydroxyphenylalanine
/
5-Hydroxytryptophan
/
Neonatal Screening
/
Neopterin
/
Phosphorus-Oxygen Lyases
Language:
English
Journal:
Southeast Asian J Trop Med Public Health
Year:
2003
Type:
Article
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