Assessment
Questionnaire

Have a symptom?
See what questions
a doctor would ask.
 
Dictionary » Carbohydrate deficient glycoprotein syndrome type 1a
 

Carbohydrate deficient glycoprotein syndrome type 1a

Introduction: Carbohydrate deficient glycoprotein syndrome type 1a

Description of Carbohydrate deficient glycoprotein syndrome type 1a

Carbohydrate deficient glycoprotein syndrome type 1a (medical condition): A very rare inherited metabolic disorder where defective...more »

See also:

Congenital disorder of glycosylation type 1A:
  »Introduction: Congenital disorder of glycosylation type 1A
  »Symptoms of Congenital disorder of glycosylation type 1A

Carbohydrate deficient glycoprotein syndrome 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

Carbohydrate deficient glycoprotein syndrome type 1a: Related Topics

These medical condition or symptom topics may be relevant to medical information for Carbohydrate deficient glycoprotein syndrome type 1a:

Carbohydrate deficient glycoprotein syndrome type 1a as a Disease

Carbohydrate deficient glycoprotein syndrome type 1a: Another name for Congenital disorder of glycosylation type 1A (or close medical condition association).
  »Introduction: Congenital disorder of glycosylation type 1A
  »Symptoms of Congenital disorder of glycosylation type 1A

Carbohydrate deficient glycoprotein syndrome type 1a: Related Diseases

Carbohydrate deficient glycoprotein syndrome type 1a: Carbohydrate deficient glycoprotein syndrome type 1a is listed as a type of (or associated with) the following medical conditions in our database:

Symptoms of Carbohydrate deficient glycoprotein syndrome type 1a (Congenital disorder of glycosylation type 1A)

Some of the symptoms of Carbohydrate deficient glycoprotein syndrome type 1a incude:

Terms associated with Carbohydrate deficient glycoprotein syndrome type 1a:

Terms Similar to Carbohydrate deficient glycoprotein syndrome type 1a:

Source: Diseases Database

External links related to: Carbohydrate deficient glycoprotein syndrome type 1a

Source: Diseases Database

Interesting Medical Articles:

Medical dictionaries:

More Medical Dictionary Topics

  • Convergence excess
  • Convergence excess or spasm
  • Convergence insufficiency
  • Convergence insufficiency or palsy
  • Convergence nucleus of Perlia
  • Convergence, Ocular
  • Convergence-retraction nystagmus
  • Convergent
  • Convergent evolution
  • Convergent nystagmus

    Find out more

    Search to find out more about Carbohydrate deficient glycoprotein syndrome type 1a:

      
      
    powered by
    Google
  •  

    By using this site you agree to our Terms of Use. Information provided on this site is for informational purposes only; it is not intended as a substitute for advice from your own medical team. The information on this site is not to be used for diagnosing or treating any health concerns you may have - please contact your physician or health care professional for all your medical needs. Please see our Terms of Use.

    Home | Symptoms | Diseases | Diagnosis | Videos | Tools | Forum | About Us | Terms of Use | Privacy Policy | Site Map | Advertise