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Congenital disorder of glycosylation type 1K

Congenital disorder of glycosylation type 1K: Introduction

Congenital disorder of glycosylation type 1K: Congenital disorders of glycosylation is a group of very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type Ik is caused by a defect on chromosome 16p13.3 and involves a defect in the gene for beta-1,4-mannosyltransferase. The disorder is generally fatal within a year or two of birth. More detailed information about the symptoms, causes, and treatments of Congenital disorder of glycosylation type 1K is available below.

Symptoms of Congenital disorder of glycosylation type 1K

Home Diagnostic Testing

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Causes of Congenital disorder of glycosylation type 1K

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Congenital disorder of glycosylation type 1K: Undiagnosed Conditions

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Misdiagnosis and Congenital disorder of glycosylation type 1K

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. Although the most common symptoms are ...read more »

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Blood pressure cuffs misdiagnose hypertension in children: One known misdiagnosis issue with hyperension, arises in relation to the simple equipment used to...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 migraines can also occur in children....read more »

Congenital disorder of glycosylation type 1K: Research Doctors & Specialists

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Hospitals & Clinics: Congenital disorder of glycosylation type 1K

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Prognosis for Congenital disorder of glycosylation type 1K

Prognosis for Congenital disorder of glycosylation type 1K: This particular form of the disorder progresses rapidly and leads to early death.

Congenital disorder of glycosylation type 1K: Broader Related Topics

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More information about Congenital disorder of glycosylation type 1K

  1. Congenital disorder of glycosylation type 1K: Introduction
  2. Symptoms
  3. Causes
  4. Treatments
  5. Misdiagnosis
  6. Home Testing
  7. Prognosis
 

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