Glycine Encephalopathy With Normal Serum Glycine

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

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).

Genes related to Glycine Encephalopathy With Normal Serum Glycine

SLC6A9

View recommended genes panels

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.

Click here to know more about Mendelian.

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.

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 Panel complete gene list BCS1L, CNNM2, RYR1, CNNM4, SCN4A, SEC23B, SGSH, SI, SLC40A1, SLC12A3, SLC16A1, SLC17A5, SLC22A5, SLC25A1, SLC25A13, SLC25A15, SLC25A3, SLC25A4, SLC2A1, SLC2A2, SLC35A1, SLC35A2, SLC3A1, SLC5A1, SLC6A8, SLC6A9, SLC7A7, SLC7A9, SMPD1, BTD, SPG7, SSR4, SUCLA2, SUCLG1, SUOX, TAT, TAZ, TWNK, HNF1A, HNF1B, TCF4, TCN2, TFR2, TIMM8A, TK2, ACOX1, TPMT, TREX1, MYOT, UCP2, UMOD, UMPS, UROD, UROS, WFS1, XDH, ZMPSTE24, LPIN1, MCOLN1, FBXL4, GFM1, CACNA1S, SLC25A20, NPC2, AMN, ADAMTSL2, COG5, CASR, CAV1, CAV3, GPHN, CBS, HAMP, NBAS, ALG9, LDB3, BSCL2, RBCK1, SAMHD1, APTX, SUGCT, NFU1, UPB1, LIAS, BSND, CD320, MCEE, COQ8A, MFN2, NIPA2, SLC39A4, RRM2B, NGLY1, SARS2, ACY1, PDSS1, NT5C3A, TRPM6, NAGS, FKRP, MOCOS, ALG1, ATP6V0A2, RNASEH2A, ADA, COG4, COG6, COG7, COG8, MMAA, IFIH1, TBC1D4, MMAB, ALG12, COQ4, GLRX5, CLCN1, SLC35C1, B3GLCT, COQ6, CLCNKB, CLDN16, SUMF1, CLDN19, L2HGDH, DHDDS, SLC25A26, TPP1, CLN3, CLN5, CLN6, CLN8, SERAC1, DYM, PDHX, ACAD9, NHLRC1, ANTXR2, AGK, COL11A2, COQ7, ADAR, GMPPA, PEX26, GNPTG, LMBRD1, PDSS2, ALG3, ALG6, ALG2, ALG8, CPOX, CPT1A, CPT2, DOLK, GNE, PTF1A, RNASEH2C, BOLA3, MMACHC, FLAD1, FAM111A, MOGS, CTH, CTNS, MMADHC, COQ2, CTSC, CTSD, COQ9, SLC30A10, CTSK, TMEM126A, TANGO2, CUBN, ANO10, RNASEH2B, ADK, SRD5A3, TMEM70, HGSNAT, C12orf65, FOXRED1, DBT, DDOST, ACSF3, ANO5, SLC6A19, NDUFAF2, D2HGDH, MFSD8, DGUOK, DHCR7, DHODH, COQ5, MAGT1, DLD, ADSL, LIPT1, GNPTAB, DNM1L, ISCU, DPAGT1, DPM1, DPM2, DPM3, DPYD, DPYS, ATP13A2, RFT1, TUSC3, SLC46A1, STT3B, CLPB, TMEM165, PNPLA2, ALG13, DYSF, EBP, TYMP, ECHS1, AGA, AGL, EGF, ALG11, AGPAT2, AGPS, ENO3, AGXT, EPM2A, AHCY, ETFA, ETFB, ETFDH, FAH, FBP1, FKTN, FECH, FH, FLNA, FLNB, FMO3, FOLR1, AKT2, ALAD, ALAS2, FUCA1, FXYD2, G6PC, SLC37A4, GAA, ALDH5A1, GALC, GALE, GALK1, GALNS, GALT, GAMT, ALDOA, ALDOB, GATM, GBA, GBE1, GCDH, GCH1, GCK, GCSH, CBLIF, GLA, GLB1, GLDC, GLUD1, GLUL, GM2A, GNMT, GNPAT, GNS, GPC3, AMACR, AMPD1, GUSB, GYG1, GYS1, GYS2, AMT, HADH, HSD17B10, HADHA, HADHB, HCFC1, HEXA, HEXB, HFE, HJV, HGD, HIBCH, HLCS, HMBS, HMGCL, HMGCS2, HNF4A, HPD, HPRT1, HRAS, HSD17B4, HYAL1, IDH2, IDS, IDUA, ABCC8, INSR, ABCD1, PDX1, STT3A, IVD, KCNA1, KCNJ10, KCNJ11, APRT, KCNJ2, LAMA2, LAMP2, LCT, LDHA, COG1, LIPA, LIPE, ARG1, LMNA, ABCD3, ABCD4, MAN1B1, MAN2B1, MANBA, MCCC1, MCCC2, MGAT2, ARSA, ARSB, MLYCD, MOCS1, MOCS2, MPDU1, MPI, MPV17, ASAH1, MTHFR, ASL, MTR, MTRR, TRIM37, MMUT, ASPA, MYH3, ASS1, NAGA, NAGLU, NDUFS1, NEU1, PNP, NPC1, ATIC, OAT, OPA1, OPA3, OTC, OXCT1, PAH, PC, PCBD1, PCCA, PCCB, ACAD8, ATP7B, PCK1, ALDH7A1, ACADL, PDHA1, PDHB, PEPD, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX3, PEX6, PEX7, PFKM, PGAM2, PGK1, ACADM, AUH, PGM1, PHKA1, PHKA2, PHKB, PHKG2, PHYH, SERPINA1, ACADS, PLIN1, ACADSB, PMM2, POLG, POLG2, ACADVL, PPARG, B4GALT1, CTSA, PPOX, ACAT1, PPT1, PRKAG2, PRODH, PRPS1, PSAP, CAVIN1, PTS, PEX19, PEX2, PEX5, PYGL, PYGM, QDPR, RAI1, BCKDHA, BCKDHB, REN 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 %

You can get up to -2 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like UROFACIAL SYNDROME 2; UFS2 POLYCYSTIC KIDNEY DISEASE 1; PKD1