Progression of 6-pyruvoyl-tetrahydropterin Synthase Deficiency from a Peripheral into a Central Phenotype

Overview

Journal J Inherit Metab Dis

Publisher Wiley

Date 1990 Jan 1

PMID 1700190

Citations 5

Authors

A Ponzone

N Blau

O Guardamagna

G B Ferrero

I Dianzani

W Endres

Affiliations

Soon will be listed here.

Citing Articles

Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH) deficiencies.

Opladen T, Lopez-Laso E, Cortes-Saladelafont E, Pearson T, Sivri H, Yildiz Y Orphanet J Rare Dis. 2020; 15(1):126.

PMID: 32456656 PMC: 7251883. DOI: 10.1186/s13023-020-01379-8.

A requirement for Gch1 and tetrahydrobiopterin in embryonic development.

Douglas G, Hale A, Crabtree M, Ryan B, Hansler A, Watschinger K Dev Biol. 2015; 399(1):129-138.

PMID: 25557619 PMC: 4347993. DOI: 10.1016/j.ydbio.2014.12.025.

An international survey of patients with tetrahydrobiopterin deficiencies presenting with hyperphenylalaninaemia.

Opladen T, Hoffmann G, Blau N J Inherit Metab Dis. 2012; 35(6):963-73.

PMID: 22729819 DOI: 10.1007/s10545-012-9506-x.

Abnormalities of biogenic amine metabolism.

Hyland K J Inherit Metab Dis. 1993; 16(4):676-90.

PMID: 8412014 DOI: 10.1007/BF00711900.

A case of 6-pyruvoyl-tetrahydropterin synthase deficiency after screening 1,500,000 newborns in Greece.

Schulpis K, Covanis A, Loumakou M, Frantzis N, Papandreou O, Divolli A J Inherit Metab Dis. 1991; 14(5):845-6.

PMID: 1779640 DOI: 10.1007/BF01799967.

References

Blau N . Inborn errors of pterin metabolism. Annu Rev Nutr. 1988; 8:185-209. DOI: 10.1146/annurev.nu.08.070188.001153. View

Niederwieser A, Leimbacher W, Curtius H, Ponzone A, Rey F, Leupold D . Atypical phenylketonuria with "dihydrobiopterin synthetase" deficiency: absence of phosphate-eliminating enzyme activity demonstrated in liver. Eur J Pediatr. 1985; 144(1):13-6. DOI: 10.1007/BF00491917. View

Blaskovics M, Schaeffler G, Hack S . Phenylalaninaemia. Differential diagnosis. Arch Dis Child. 1974; 49(11):835-43. PMC: 1649234. DOI: 10.1136/adc.49.11.835. View

Shintaku H, Niederwieser A, Leimbacher W, Curtius H . Tetrahydrobiopterin deficiency: assay for 6-pyruvoyl-tetrahydropterin synthase activity in erythrocytes, and detection of patients and heterozygous carriers. Eur J Pediatr. 1988; 147(1):15-9. DOI: 10.1007/BF00442604. View

Niederwieser A, Shintaku H, Leimbacher W, Curtius H, Hyanek J, Zeman J . "Peripheral" tetrahydrobiopterin deficiency with hyperphenylalaninaemia due to incomplete 6-pyruvoyl tetrahydropterin synthase deficiency or heterozygosity. Eur J Pediatr. 1987; 146(3):228-32. DOI: 10.1007/BF00716465. View