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What is Congenital disorder of glycosylation type 1A?

What is Congenital disorder of glycosylation type 1A?

  • 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.
  • 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

Congenital disorder of glycosylation type 1A: Introduction

Types of Congenital disorder of glycosylation type 1A:

Broader types of Congenital disorder of glycosylation type 1A:

How serious is Congenital disorder of glycosylation type 1A?

Complications of Congenital disorder of glycosylation type 1A: see complications of Congenital disorder of glycosylation type 1A

What causes Congenital disorder of glycosylation type 1A?

Causes of Congenital disorder of glycosylation type 1A: see causes of Congenital disorder of glycosylation type 1A

What are the symptoms of Congenital disorder of glycosylation type 1A?

Symptoms of Congenital disorder of glycosylation type 1A: see symptoms of Congenital disorder of glycosylation type 1A

Complications of Congenital disorder of glycosylation type 1A: see complications of Congenital disorder of glycosylation type 1A

Congenital disorder of glycosylation type 1A: Testing

Diagnostic testing: see tests for Congenital disorder of glycosylation type 1A.

Misdiagnosis: see misdiagnosis and Congenital disorder of glycosylation type 1A.

How is it treated?

Doctors and Medical Specialists for Congenital disorder of glycosylation type 1A: Medical Geneticist ; see also doctors and medical specialists for Congenital disorder of glycosylation type 1A.
Treatments for Congenital disorder of glycosylation type 1A: see treatments for Congenital disorder of glycosylation type 1A

Name and Aliases of Congenital disorder of glycosylation type 1A

Main name of condition: Congenital disorder of glycosylation type 1A

Other names or spellings for Congenital disorder of glycosylation type 1A:

carbohydrate deficiency glycoprotein syndrome type 1A previously known as, CDG1A, Carbohydrate deficient glycoprotein syndrome, CDGS1A, CDG syndrome, Carbohydrate-deficient glycoprotein syndrome type 1A, Jaeken syndrome, Phosphomannomutase 2 deficiency, PMM2 deficiency

Inherited olivopontocerebellar atrophy, Jaeken syndrome, Phosphomannomutase 2 deficiency, Carbohydrate deficient glycoprotein syndrome type 1a Source - Diseases Database

 

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