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Diagnosis
of Glycine Encephalopathy (NKH)
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Amino Acid analysis
Performed on plasma and CSF.
Collect plasma and CSF samples at the same time for determination of the
ratio of plasma glycine to CSF glycine.
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Enzyme assay
Performed on liver, lymphoblasts,
uncultured CVS.
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Molecular diagnosis
Between 10-35% of patients have a defect in the T protein (aminomethyl
transferase) gene and the rest of the patients have a defect in the P protein
(glycine decarboxylase) gene.
Defects in the H protein gene are very rare. Defects in the L protein cause a
different type of disease.
Most patients will be compound heterozygotes.
Mutation search is costly and may be family specific.
Resources for enzyme and molecular testing:
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Seattle
Children's Hospital
Biochemical
and Molecular Genetics Laboratories
Seattle, WA
Phone: 206-987-987-5306
e-mail: monica.wellner@seattlechildrens.org
or rhona.jack@seattlechildrens.org
Services: Liver enzyme assay
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Mary Anne
Preece
Director of Inherited Metabolic Disorders Laboratory
Tel: 0121 333 9940
e-mail maryanne.preece@bch.nhs.uk
Web:
www.bch.org.uk/departments/clinicalchemistry/imd/laboratoryservice.htm
Services: Glycine Cleavage enzyme assay in liver; prenatal diagnosis by
enzyme assay in uncultured CVS.
Screening of DNA for five common mutations.
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Centre de
Biologie Est - Hospices Civils de Lyon
Maladies héréditaires du métabolisme
Bron, France
Christine
Vianey-Saban, PhD
e-mail christine.saban@chu-lyon.fr
phone: (+33)
472129694
Services: Enzyme assay, liver. Prenatal testing of CVS.
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Dr Brett
Casey
Molecular Genetics Laboratory
Children's Hospital
Vancouver, British Columbia, Canada
E-mail: bcasey@cw.bc.ca
Services: Dr. Casey is willing to work with clinical geneticists to
begin mutation searches for families.
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