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Article

Autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia: evidence of a phenotypic continuum between dominant and recessive forms.

Molecular genetics and metabolism - 1 May 2008

Horvath Gabriella A, Stockler-Ipsiroglu Sylvia G, Salvarinova-Zivkovic Ramona, Lillquist Yolanda P, Connolly Mary, Hyland Keith, Blau Nenad, Rupar Tony, Waters Paula J

Abstract excerpt

We describe a unique presentation of autosomal recessive (AR) GTP cyclohydrolase I (GTPCH) deficiency, with severe CNS involvement but without hyperphenylalaninemia. A male infant presented with progressive spasticity, dystonia and oculogyric episodes. Blood phenylalanine levels were persistently normal: whereas an oral phenylalanine loading test revealed impaired phenylalanine clearance. CSF neopterin and...

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Source

Identifiers

PMID: 18276179
DOI: 10.1016/j.ymgme.2008.01.003

Genes

GCH1

Variants

Provenance

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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