Congenital Disorders of Glycosylation Type Ia
Congenital Disorders of Glycosylation Type Ia: Introduction
Congenital Disorders of Glycosylation Type Ia: A very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 1A involves a phosphomannomutase enzyme defect and affects most body systems especially the nervous system and liver function.
More detailed information about the symptoms,
causes, and treatments of Congenital Disorders of Glycosylation Type Ia is available below.
Symptoms of Congenital Disorders of Glycosylation Type Ia
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symptoms of Congenital Disorders of Glycosylation Type Ia
Treatments for Congenital Disorders of Glycosylation Type Ia
- There is no specific treatment for the condition but cognitive and motor rehabilitation as well as other therapies to manage symptoms can improve quality of life. Genetic counseling is also recommended
- more treatments...»
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Home Diagnostic Testing
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Wrongly Diagnosed with Congenital Disorders of Glycosylation Type Ia?
Congenital Disorders of Glycosylation Type Ia: Complications
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Causes of Congenital Disorders of Glycosylation Type Ia
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Congenital Disorders of Glycosylation Type Ia: Undiagnosed Conditions
Commonly undiagnosed diseases in related medical categories:
Misdiagnosis and Congenital Disorders of Glycosylation Type Ia
Mild worm infections undiagnosed in children: Human worm infestations, esp. threadworm, can be overlooked in some cases,
because it may cause only mild or even absent symptoms....read more »
Mesenteric adenitis misdiagnosed as appendicitis in children: Because appendicitis is one of the
more feared conditions for a child with abdominal pain, it can be over-diagnosed
(it can, of course, also fail to be diagnosed with fatal effect)....read more »
Blood pressure cuffs misdiagnose hypertension in children: One known misdiagnosis issue
with hyperension, arises in relation to the simple equipment used to test blood pressure.
The "cuff" around the arm to measure blood...read more »
Children with migraine often misdiagnosed: A migraine often fails to be
correctly diagnosed in pediatric patients.
These patients are not the typical migraine sufferers, but...read more »
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Congenital Disorders of Glycosylation Type Ia: Research Doctors & Specialists
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Hospitals & Clinics: Congenital Disorders of Glycosylation Type Ia
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Congenital Disorders of Glycosylation Type Ia: Broader Related Topics
Types of Congenital Disorders of Glycosylation Type Ia
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