Glycogen debranching deficiency

Glycogen debranching deficiency: Introduction

Glycogen debranching deficiency: A rare metabolic disorder where an enzyme deficiency (amylo-1,6-glucosidase) results in a harmful buildup of glycogen byproducts in the liver, muscle and even the heart in some cases. The severity of symptoms is variable depending on the degree of enzyme deficiency and how strictly treatment measures are adhered to. More detailed information about the symptoms, causes, and treatments of Glycogen debranching deficiency is available below.

Symptoms of Glycogen debranching deficiency

• Short stature
• Retarded growth
• Failure to thrive
• Underdeveloped midface
• Deep-set eyes
• more symptoms...»

See full list of 18 symptoms of Glycogen debranching deficiency

Treatments for Glycogen debranching deficiency

• Dietary changes, avoiding fasting, frequent meals and consuming uncooked starch supplements. Nasogastric feeding tube may be required at night to prevent drops in blood sugar levels
• more treatments...»

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Wrongly Diagnosed with Glycogen debranching deficiency?

• Failure to diagnose Glycogen debranching deficiency
• Hidden causes of Glycogen debranching deficiency (possibly wrongly diagnosed)
• Undiagnosed: Glycogen debranching deficiency

Glycogen debranching deficiency: Complications

Review possible medical complications related to Glycogen debranching deficiency:

• Liver scarring (see Liver symptoms)
• more complications...»

Causes of Glycogen debranching deficiency

• The genetic condition is inherited in an autosomal recessive manner
• more causes...»

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More information about causes of Glycogen debranching deficiency:

• Underlying causes of Glycogen debranching deficiency

Less Common Symptoms of Glycogen debranching deficiency

• Cardiomyopathy - occurs later in life
• more symptoms...»

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Prognosis for Glycogen debranching deficiency

Prognosis for Glycogen debranching deficiency: Some patients only suffer liver problems whereas other patients develop muscle problems as well. Symptoms tend to improve by adulthood unless liver and muscle problems develop.

More about prognosis of Glycogen debranching deficiency

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