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GTR Home > Conditions/Phenotypes > Atypical glycine encephalopathy

Atypical glycine encephalopathy

Synonyms
Glycine encephalopathy with normal serum glycine
Modes of inheritance
Unknown inheritance (Orphanet)

Summary

Excerpted from the GeneReview: GLYT1 Encephalopathy
GLYT1 encephalopathy is characterized in neonates by severe hypotonia, respiratory failure requiring mechanical ventilation, and absent neonatal reflexes; encephalopathy, including impaired consciousness and unresponsiveness, may be present. Arthrogryposis or joint laxity can be observed. Generalized hypotonia develops later into axial hypotonia with limb hypertonicity and a startle-like response to vocal and visual stimuli which should not be confused with seizures. To date, three of the six affected children reported from three families died between ages two days and seven months; the oldest reported living child is severely globally impaired at age three years. Because of the limited number of affected individuals reported to date, the phenotype has not yet been completely described.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
References
Chapter Notes
Authors:
Alina Kurolap
Tova Hershkovitz
Hagit N Baris
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Available tests

19 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (19 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: GCENSG, GLYT1, SLC6A9
    Summary: solute carrier family 6 member 9

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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