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Congenital disorder of glycosylation type 1A

Congenital disorder of glycosylation type 1A: Introduction

Congenital disorder of glycosylation type 1A: 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 disorder of glycosylation type 1A is available below.

Symptoms of Congenital disorder of glycosylation type 1A

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Congenital disorder of glycosylation type 1A: Complications

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Causes of Congenital disorder of glycosylation type 1A

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Less Common Symptoms of Congenital disorder of glycosylation type 1A

Congenital disorder of glycosylation type 1A: Undiagnosed Conditions

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Misdiagnosis and Congenital disorder of glycosylation type 1A

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Definitions of Congenital disorder of glycosylation type 1A:

An inborn error of carbohydrate metabolism manifesting as a genetic multisystem disorder of autosomal recessive inheritance. A predominant feature is severe central and peripheral nervous system involvement resulting in psychomotor retardation, seizures, cerebellar ataxia, and other symptoms which include growth retardation, retinitis pigmentosa, hypothyroidism, and fatty liver. The notable biochemical feature is the deficiency of a large number of blood glycoproteins and decreased activities of various blood coagulation factors. - (Source - Diseases Database)

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More information about Congenital disorder of glycosylation type 1A

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

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