Diseases » Glycogen branching deficiency » Introduction

Glycogen branching deficiency

Glycogen branching deficiency: Introduction

Glycogen branching deficiency: A rare metabolic disorder where an enzyme deficiency (glycogen branching enzyme) 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 branching deficiency is available below.

Symptoms of Glycogen branching deficiency

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

See full list of 18 symptoms of Glycogen branching deficiency

Treatments for Glycogen branching 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 branching deficiency?

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

Glycogen branching deficiency: Complications

Review possible medical complications related to Glycogen branching deficiency:

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

Causes of Glycogen branching deficiency

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

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More information about causes of Glycogen branching deficiency:

• Underlying causes of Glycogen branching deficiency

Less Common Symptoms of Glycogen branching deficiency

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

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Misdiagnosis and Glycogen branching deficiency

Vitamin B12 deficiency under-diagnosed: The condition of Vitamin B12 deficiency is a possible misdiagnosis of various conditions, such as multiple sclerosis (see symptoms of multiple sclerosis). See symptoms of...read more »

Read more about Misdiagnosis and Glycogen branching deficiency

Prognosis for Glycogen branching deficiency

Prognosis for Glycogen branching 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 branching deficiency

Statistics for Glycogen branching deficiency

• Medical statistics for Glycogen branching deficiency
• Prevalence and incidence statistics for Glycogen branching deficiency
• Death and Mortality statistics for Glycogen branching deficiency
• Society statistics for Glycogen branching deficiency

Glycogen branching deficiency: Broader Related Topics

• Genetic conditions
• Metabolic conditions
• Congenital conditions - metabolic disorders
• more types...»

Types of Glycogen branching deficiency

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Definitions of Glycogen branching deficiency:

Ophanet, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000. They list Glycogen branching deficiency as a "rare disease".
Source - Orphanet

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