Differential diagnosis of hyperphenylalaninaemia by a combined phenylalanine-tetrahydrobiopterin loading test

  title={Differential diagnosis of hyperphenylalaninaemia by a combined phenylalanine-tetrahydrobiopterin loading test},
  author={Alberto Ponzone and Ornella Guardamagna and Marco Spada and Silvio Ferraris and Riccardo Ponzone and Lucja Kierat and Nenad Blau},
  journal={European Journal of Pediatrics},
We describe a new fully reliable method for the differential diagnosis of tetrahydrobiopterin-dependent hyperphenylalaninaemia (HPA). The method comprises the combined phenylalanine (Phe) plus tetrahydrobiopterin (BH4) oral loading test and enables the selective screening of BH4 deficiency when pterin analysis is not available or when a clear diagnosis has not been previously made. It should be performed together with the measurement of dihydropteridine reductase (DHPR) activity in blood. The… CONTINUE READING


Publications citing this paper.
Showing 1-10 of 17 extracted citations

Short prolactin profile for monitoring treatment in BH4 deficiency.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society • 2015

Clinical therapeutics for phenylketonuria

Drug Delivery and Translational Research • 2012
View 1 Excerpt

Impact of neonatal protein metabolism and nutrition on screening for phenylketonuria.

Journal of pediatric gastroenterology and nutrition • 2008
View 2 Excerpts


Publications referenced by this paper.
Showing 1-10 of 30 references

Hyperphenylalaninemia and pterin metabolism in serum and erythrocytes.

Clinica chimica acta; international journal of clinical chemistry • 1993

Guidelines for the screening for hyperphenylalaninemia due to tetrahydrobiopterin deficiency

N Blau
Cro Med J • 1992
View 1 Excerpt

Molecular basis of phenotypic heterogeneity in phenylketonuria

Y Okano, RC Eisensmith, +8 authors SCL Woo
N Engl J Med • 1991
View 1 Excerpt

Strategy for the screening of tetrahydrobiopterin deficiency among hyperphenylalaninemic patients: 15 years experience

Dhondt J-L
J Inherited Metab Dis • 1991
View 1 Excerpt

Screening and treatment of tetrahydrobiopterin deficiency

A Ponzone, GB Ferrero, +3 authors N Blau
Curtius H-C, Ghisla S, Blau N (eds) Chemistry and biology of pteridines. Walter de Gruyter, Berlin, • 1990
View 1 Excerpt

Heterogeneity of tetrahydrobiopterin deficiency : Combined phenylalanine - tetrahydrobiopterin loading test

A Ponzone, O Guardamagna, +5 authors Cotton RGH

Primapterinuria: A New Variant of Atypical Phenylketonuria

Journal of Inherited Metabolic Disease • 1989
View 1 Excerpt

Inborn errors of pterin metabolism.

Annual review of nutrition • 1988
View 1 Excerpt

Similar Papers

Loading similar papers…