Glycogen Storage Disease Due To Lactate Dehydrogenase H-subunit Deficiency

Clinical Features

Phenotypes and symptoms related to Glycogen Storage Disease Due To Lactate Dehydrogenase H-subunit Deficiency

  • Anemia
  • Renal insufficiency
  • Hemolytic anemia
  • Reticulocytosis
  • Myoglobinuria
  • Reduced lactate dehydrogenase B level

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

Glycogen Storage Disease Due To Lactate Dehydrogenase H-subunit Deficiency Is also known as ldh-h subunit deficiency, lactate dehydrogenase b deficiency, glycogenosis due to lactate dehydrogenase h-subunit deficiency, gsd due to lactate dehydrogenase h-subunit 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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Glycogen Storage Disease Due To Lactate Dehydrogenase H-subunit 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 %
Lactate dehydrogenase-B deficiency.

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

LDHB
Specificity
100 %
Genes
100 %
Nuclear-Mito NGS Panel.

By Fulgent Genetics Fulgent Genetics (United States).

RNASEL, BCS1L, RPL35A, MRPL3, RYR1, RYR2, SACS, ACSM3, SARDH, ATXN7, SCN1A, SCN1B, SCN2A, SCN4A, SCN5A, SCO1, SCO2, SCP2, SDHA, SDHB , (...)

View the complete list with 476 more genes
Specificity
1 %
Genes
100 %
LDHB.

By Fulgent Genetics Fulgent Genetics (United States).

LDHB
Specificity
100 %
Genes
100 %

We have -4 more panels available in our App

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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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