Diagnosis and treatment of 6-pyruvoyl-tetrahydropterin synthase deficiency

Brain and Development

Volumn 22, Issue SUPPL. 1, 2000, Pages 118-121

  Shintaku, Haruo ^a   Asada, Minoru ^a   Sawada, Yoshitomo ^b  

^a Osaka Prefecture University   (Japan)

^b OSAKA CITY GENERAL HOSPITAL   (Japan)

Author keywords

5 hydroxy indole acetic acid; Biopterin; Cerebrospinal fluid; Homovanillic acid; Hyperphenylalaninemia; Neopterin; Pyruvoyl tetrahydropterin synthase deficiency; Tetrahydrobiopterin

Indexed keywords

5 HYDROXYTRYPTOPHAN; 6 PYRUVOYLTETRAHYDROPTERIN SYNTHASE; BIOPTERIN; LEVODOPA; TETRAHYDROBIOPTERIN;

BLOOD LEVEL; CASE REPORT; CEREBROSPINAL FLUID LEVEL; CONFERENCE PAPER; ENZYME DEFICIENCY; FEMALE; HUMAN; NEWBORN; NEWBORN SCREENING;

EID: 0033839367     PISSN: 03877604     EISSN: None     Source Type: Journal    
DOI: 10.1016/s0387-7604(00)00132-7     Document Type: Conference Paper

References (10)

1. Blau N., Barnes I., Dhondt J.L. International database of tetrahyhdrobiopterin deficiencies. J Inher Metab Dis. 19:1996;8-14.
2. Hreidarsson S., Valle D., Holtsman N., Coyle J., Singer H., Kapatos G., Kaufmann S. A peripheral defect in biopterin synthesis: a new mutant. Pediatr Res. 16:1982;192A.
3. Hoganson G., Berlow S., Kaufman S., Milstien S., Schuett V., Matalon R., et al. Biopterin synthesis defects: problems in diagnosis. Pediatrics. 74:1984;1004-1011.
4. Niederwieser A., Shintaku H., Leimbacher W., Curtius H.C., Hyanek J., Zeman J., Endres W. Peripheral tetrahydrobiopterin deficiency with hyperphenylalninaemia due to incomplete 6-pyruvoyl tetrahydropterin synthase deficiency. Eur J Pediatr. 146:1987;228-232.
5. Allanson J., McInners R., Bradley L., Tarby T., Naylor E., Nardella M. Combined transient and peripheral defects in tetrahydrobiopterin synthesis. J Pediatr. 118:1991;261-263.
6. Scriver C.R., Clow C.L., Kaplan P., Niederwieser A. Hyperphenylalaninemia due to deficiency of 6-pyruvoyl tetrahydropterin synthase Unusual gene dosage effect in heterozygote. Hum Genet. 77:1987;168-171.
7. Dhondt J.L., Farriaux J.P. Atypical cases of phenylketonuria. Eur J Pediatr. 146(Suppl 1):1987;A38-A43.
8. Shintaku H., Niederwieser A., Leimbacher W., Curtius H.C. Tetrahydrobiopterin deficiency: assay for 6-pyruvoyl tetrahydropterin synthase activity in erythrocytes, and detection of patients and heterozygous carriers. Eur J Pediatr. 147:1988;15-19.
9. Shintaku H. Early diagnosis of 6-pyruvoyltetrahydropterin synthase deficiency. Pteridines. 5:1994;18-27.
10. Sawada Y., Shintaku H., Isshiki G. Neopterin and biopterin concentrations in cerebrospinal fluid in controls less than 1 year old. Brain Dev. 21:1999;264-267.