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Article

Clinical and biochemical characterization of patients with early infantile onset of autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia.

Movement disorders : official journal of the Movement Disorder Society - 1 Jan 2011

Opladen Thomas, Hoffmann Georg, Hörster Friederike, Hinz Anne-Bärbel, Neidhardt Katharina, Klein Christine, Wolf Nicole

Abstract excerpt

Autosomal recessive guanosine triphosphate cyclohydrolase (GTPCH) type I deficiency is characterized by complex neurological dysfunction. Patients are usually diagnosed with hyperphenylalaninemia in newborn screening. We describe two unrelated patients without hyperphenylalaninemia who presented during early infancy with severe motor retardation, hypokinesia, and truncal hypotonia. CSF homovanillic acid and...

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Source

Identifiers

PMID: 20818608
DOI: 10.1002/mds.23329

Genes

GCH1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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