Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency

Description

Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy.

Clinical Features

Top most frequent phenotypes and symptoms related to Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency

  • Short stature
  • Growth delay
  • Muscle weakness
  • Muscular hypotonia
  • Depressed nasal bridge
  • Motor delay
  • Hepatomegaly
  • Cardiomyopathy
  • Myopathy
  • Intellectual disability, mild

And another 26 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

Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency Is also known as gde deficiency, gsd due to glycogen debranching enzyme deficiency, cori-forbes disease, glycogenosis type iii, glycogen storage disease type 3, gsd type 3, limit dextrinosis, glycogen storage disease type iii, glycogenosis type 3, glycogenosis due to glycogen debr.

Researches and researchers

Doctors, researchs, and experts related to Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency extracted from public data.

Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency Experts map



Current Researchs and researchers

  • EVRY — Dr Giuseppe RONZITTI

    Investigator of research project

    • Institution/s:
      — Institut des Biothérapies, Généthon
    • Research area/topic::

      TRACeGSDIII : Translational optimization of AAV vectors to cure GSDIII


  • MILANO — Pr Giacomo Pietro COMI

    Coordinator of expert centre - Principal investigator of clinical trial - Investigator of clinical trial - Investigator of research project - Manager of registry

    • Institution/s:
      — Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico
      — Dipartimento di Neuroscienze e Salute Mentale, Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico
    • Research area/topic::

      Gene therapy and long term evaluation of different dietary regimens in a Glycogen Storage Disease Type III KO mouse model



Mendelian

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Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Search Engine

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