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Article

Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Dutch neonates.

Journal of inherited metabolic disease - 1 Jun 2001

Spaapen L J, Bakker J A, Velter C, Loots W, Rubio-Gozalbo M E, Forget P P, Dorland L, De Koning T J, Poll-The B T, Ploos van Amstel H K, Bekhof J, Blau N, Duran M, Rubio-Gonzalbo M E

Abstract excerpt

Four neonates with a positive phenylalanine screening test (Phe concentrations between 258 and 1250 micromol/L) were investigated further to differentiate between phenylalanine hydroxylase (PAH) deficiency and variant hyperphenylalaninaemia (HPA) forms. In patients 1 and 2 a tetrahydrobiopterin (BH4) load caused a significant decrease of the plasma Phe levels. A combined phenylalanine/BH4 loading test was...

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Source

Identifiers

PMID: 11486900
DOI: 10.1023/a:1010596317296

Genes

PAH

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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