3-hydroxy-3-methylglutaric Aciduria

Description

3-hydroxy-3-methylglutaric aciduria (3HMG) is an organic aciduria, due to deficiency of 3-hydroxy-3-methylglutaryl-CoA-lyase (a key enzyme in ketogenesis and leucine metabolism) usually presenting in infancy with episodes of metabolic decompensation triggered by periods of fasting or infections, which when left untreated are life-threatening and may lead to neurological sequelae.

Clinical Features

Top most frequent phenotypes and symptoms related to 3-hydroxy-3-methylglutaric Aciduria

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Spasticity
  • Anemia
  • Hepatomegaly
  • Fever
  • Fatigue
  • Vomiting
  • Diarrhea

And another 27 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative names

3-hydroxy-3-methylglutaric Aciduria Is also known as hydroxymethylglutaric aciduria, hmg-coa lyase deficiency, 3-hydroxy-3-methylglutaryl-coa lyase deficiency, hmgcl deficiency, hl deficiency.

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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3-hydroxy-3-methylglutaric Aciduria 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 %
HMGCL Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

HMGCL
Specificity
100 %
Genes
100 %
HMGCL Familial Mutation/Variant Analysis.

By Baylor Miraca Genetics Laboratories (United States).

HMGCL
Specificity
100 %
Genes
100 %
HMGCL Prenatal Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

HMGCL
Specificity
100 %
Genes
100 %
HMGCL Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

HMGCL
Specificity
100 %
Genes
100 %
HMGCL Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

HMGCL
Specificity
100 %
Genes
100 %
GeneAware Complete Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories (United States).

RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, BTK , (...)

View the complete list with 139 more genes
Specificity
1 %
Genes
100 %
GeneAware Complete Panel Version 2 (Male).

By Baylor Miraca Genetics Laboratories (United States).

RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, TGM1 , (...)

View the complete list with 129 more genes
Specificity
1 %
Genes
100 %

We have 54 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET MESH OMIM Rare Disease Symptoms Checker

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