Neurodegeneration Due To 3-hydroxyisobutyryl-coa Hydrolase Deficiency

Description

Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency is characterised by delayed motor development, hypotonia and progressive neurodegeneration. To date, it has been described in four boys. The syndrome is caused by mutations affecting the two alleles of the HIBCH gene, encoding 3-hydroxyisobutyryl-CoA hydrolase. The mode of transmission has not yet been established.

Clinical Features

Top most frequent phenotypes and symptoms related to Neurodegeneration Due To 3-hydroxyisobutyryl-coa Hydrolase Deficiency

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Strabismus
  • Abnormal facial shape
  • Muscular hypotonia
  • Cryptorchidism
  • Feeding difficulties

And another 34 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.

Alternative names

Neurodegeneration Due To 3-hydroxyisobutyryl-coa Hydrolase Deficiency Is also known as beta-hydroxyisobutyryl coa deacylase deficiency, valine metabolic defect, methacrylic aciduria, hibch deficiency, methacrylic acid toxicity.

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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Neurodegeneration Due To 3-hydroxyisobutyryl-coa Hydrolase Deficiency Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMetĀ®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
100 %
Ataxia Exome Panel.

By Genetic Services Laboratory University of Chicago (United States).

BCS1L, RTN2, SACS, SCN1A, SCN2A, SCN8A, SCO1, SDHA, SDHD, SLC16A2, SLC17A5, SLC19A2, SLC1A3, SLC20A2, SLC2A1, SLC6A1, SLC9A1, SLC9A6, SNAP25, SOD1 , (...)

View the complete list with 457 more genes
Specificity
1 %
Genes
100 %
3-hydroxyisobutryl-CoA hydrolase deficiency (sequence analysis of HIBCH gene).

By CGC Genetics (Portugal).

HIBCH
Specificity
100 %
Genes
100 %
3-hydroxyisobutryl-CoA hydrolase deficiency (sequence analysis of HIBCH gene).

By CGC Genetics (Portugal).

HIBCH
Specificity
100 %
Genes
100 %
Leigh and Leigh-Like Syndrome Sequencing Panel (Nuclear Genes Only) with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

BCS1L, SCO2, SUCLA2, SUCLG1, SURF1, TSFM, FBXL4, GFM1, GTPBP3, LRPPRC, NDUFAF5, SLC19A3, LIAS, TPK1, NUBPL, NDUFAF4, SERAC1, FARS2, PDHX, COX10 , (...)

View the complete list with 43 more genes
Specificity
2 %
Genes
100 %
Mitochondrial Oxidative Phosphorylation Deficiency Sequencing Panel (Nuclear Genes Only) with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

BCS1L, MRPL12, MRPL3, SCO1, SCO2, SDHB, SDHD, SLC25A1, SLC25A3, SLC25A4, SPG7, SUCLA2, SUCLG1, SURF1, TAZ, TWNK, TK2, TSFM, TUFM, UQCRB , (...)

View the complete list with 154 more genes
Specificity
1 %
Genes
100 %
Neurogenetic Disorders - panels.

By MGZ Medical Genetics Center (Germany).

BCS1L, RTN2, RYR1, SACS, SCN1A, SCN1B, SCN2A, SCN8A, SCO1, SCO2, AIMP1, SDHA, SDHB, SDHC, SDHD, SGCE, SLC16A2, SLC17A5, SLC19A2, SLC1A3 , (...)

View the complete list with 572 more genes
Specificity
1 %
Genes
100 %
CentoICU platinum plus.

By Centogene AG - the Rare Disease Company (Germany).

RMRP, BCS1L, BDNF, RPS19, RPS6KA3, SALL1, SCN1A, SCN2A, SFTPB, SFTPC, SFTPD, ST3GAL5, STIL, SIX1, SIX5, SLC16A1, SLCO1B1, SLCO1B3, SLC22A5, BRAF , (...)

View the complete list with 487 more genes
Specificity
1 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

MESH OMIM ORPHANET Rare Disease Symptoms Checker

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