Diseases » Aspartylglucosaminidase deficiency » Introduction

Aspartylglucosaminidase deficiency

Aspartylglucosaminidase deficiency: Introduction

Aspartylglucosaminidase deficiency: A rare glycoprotein metabolism disorder caused by a deficiency of an enzyme called aspartylglucosaminidase. Patients tend to develop normally during the first few years of life and development continues slowly until adolescence when mental retardation becomes progressively worse. More detailed information about the symptoms, causes, and treatments of Aspartylglucosaminidase deficiency is available below.

Symptoms of Aspartylglucosaminidase deficiency

• Normal development during first few years of life
• Short stature
• Small skull
• Clumsiness
• Delayed speech
• more symptoms...»

See full list of 37 symptoms of Aspartylglucosaminidase deficiency

Treatments for Aspartylglucosaminidase deficiency

• There is no cure and no definitive treatment. Allogenic bone marrow grafts have not proved to be particularly helpful. Symptomatic measures such as anti-seizure medication may be used if seizures develop
• more treatments...»

Read more about treatments for Aspartylglucosaminidase deficiency

Wrongly Diagnosed with Aspartylglucosaminidase deficiency?

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

Aspartylglucosaminidase deficiency: Complications

Review possible medical complications related to Aspartylglucosaminidase deficiency:

• Premature death (type of Death)
• more complications...»

Causes of Aspartylglucosaminidase deficiency

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

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More information about causes of Aspartylglucosaminidase deficiency:

• Underlying causes of Aspartylglucosaminidase deficiency

Misdiagnosis and Aspartylglucosaminidase 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...read more »

Read more about Misdiagnosis and Aspartylglucosaminidase deficiency

Prognosis for Aspartylglucosaminidase deficiency

Prognosis for Aspartylglucosaminidase deficiency: Patients tend to survive until mid-adulthood. Mental retardation and disability may be severe by this stage.

More about prognosis of Aspartylglucosaminidase deficiency

Statistics for Aspartylglucosaminidase deficiency

• Medical statistics for Aspartylglucosaminidase deficiency
• Prevalence and incidence statistics for Aspartylglucosaminidase deficiency
• Death and Mortality statistics for Aspartylglucosaminidase deficiency
• Society statistics for Aspartylglucosaminidase deficiency

Aspartylglucosaminidase deficiency: Broader Related Topics

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

Types of Aspartylglucosaminidase deficiency

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Definitions of Aspartylglucosaminidase deficiency:

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

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