Glycine Encephalopathy With Normal Serum Glycine

Description

Glycine encephalopathy with normal serum glycine is a severe metabolic disorder characterized by arthrogryposis multiplex congenita, joint hyperlaxity, lack of neonatal respiratory effort, axial hypotonia, hypertonia with pronounced clonus, and delayed psychomotor development. Some patients may have dysmorphic facial features and/or brain imaging abnormalities. Laboratory studies show increased CSF glycine and normal or only mildly increased serum glycine. Most patients die in infancy. The disorder is similar to, but distinct from, glycine encephalopathy (GCE ) due to mutations in genes encoding the glycine cleavage system (summary by Kurolap et al., 2016).

Clinical Features

Top most frequent phenotypes and symptoms related to Glycine Encephalopathy With Normal Serum Glycine

  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Failure to thrive
  • Abnormal facial shape
  • Ptosis
  • Low-set ears
  • Flexion contracture
  • Depressed nasal bridge
  • Hypertension

And another 39 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Glycine Encephalopathy With Normal Serum Glycine Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Glycine transporter 1 deficiency (SLC6A9).

By VU University Medical Center Metabolic Unit, PX 1X 009 (Netherlands).

SLC6A9
Specificity
100 %
Genes
100 %
Invitae Glycine Encephalopathy Panel.

By Invitae (United States).

SLC6A9, NFU1, LIAS, GCSH, GLDC, AMT
Specificity
17 %
Genes
100 %
Invitae Elevated Glycine Panel.

By Invitae (United States).

SLC6A9, NFU1, LIAS, GCSH, GLDC, AMT
Specificity
17 %
Genes
100 %
SLC6A9.

By Fulgent Genetics Fulgent Genetics (United States).

SLC6A9
Specificity
100 %
Genes
100 %
Comprehensive Metabolism Panel.

By Blueprint Genetics (Finland).

BCS1L, CNNM2, RYR1, CNNM4, SCN4A, SEC23B, SGSH, SI, SLC40A1, SLC12A3, SLC16A1, SLC17A5, SLC22A5, SLC25A1, SLC25A13, SLC25A15, SLC25A3, SLC25A4, SLC2A1, SLC2A2 , (...)

View the complete list with 411 more genes
Specificity
1 %
Genes
100 %
Nonketotic Hyperglycinemia / Glycine Encephalopathy Panel.

By Blueprint Genetics (Finland).

SLC6A9, NFU1, LIAS, GLRX5, BOLA3, LIPT1, GCSH, GLDC, AMT
Specificity
12 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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