Cover Image

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

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 dur...

Full description

Saved in:
Bibliographic Details
Main Authors: Opladen, Thomas (Author) , Hoffmann, Georg F. (Author) , Hörster, Friederike (Author) , Hinz, Anne-Bärbel (Author) , Neidhardt, Katharina (Author) , Klein, Christine (Author) , Wolf, Nicole (Author)
Format: Article (Journal)
Language:English
Published: 2011
In: Movement disorders
Year: 2011, Volume: 26, Issue: 1, Pages: 157-161
ISSN:1531-8257
DOI:10.1002/mds.23329
Online Access:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1002/mds.23329
Verlag, lizenzpflichtig, Volltext: https://onlinelibrary.wiley.com/doi/abs/10.1002/mds.23329
Get full text
Author Notes:Thomas Opladen, Georg Hoffmann, Friederike Hörster, Anne-Bärbel Hinz, Katharina Neidhardt, Christine Klein, and Nicole Wolf
Description
Summary: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 5-hydroxyindoleacetic acid as well as tetrahydrobiopterin and neopterin were decreased. Diagnosis of recessive GTPCH deficiency was confirmed biochemically, and a novel homozygous mutation was identified in one patient and a compound-heterozygous mutation of GCH1 in the other. Treatment with Levodopa/Carbidopa resulted in striking clinical improvement, with age-appropriate development at follow-up at 6 years. Autosomal recessive GTPCH deficiency should be considered in infants with severe truncal hypotonia even if hyperphenylalaninemia or classical extrapyramidal symptoms are missing. Neurotransmitter analysis followed by enzyme or mutation analysis can confirm the diagnosis, and Levodopa treatment should be started at high-doses. © 2010 Movement Disorder Society
Item Description:First published online: 03 September 2010
Gesehen am 13.10.2022
Physical Description:Online Resource
ISSN:1531-8257
DOI:10.1002/mds.23329

Similar Items