Assessment
Questionnaire

Have a symptom?
See what questions
a doctor would ask.
 
Dictionary » Congenital disorder of glycosylation type 1a
 

Congenital disorder of glycosylation type 1a

Introduction: Congenital disorder of glycosylation type 1a

Description of Congenital disorder of glycosylation type 1a

Congenital disorder of glycosylation type 1a (medical condition): A very rare inherited metabolic disorder where defective carbohydrate compounds...more »

See also:

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

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: Related Topics

These medical condition or symptom topics may be relevant to medical information for Congenital disorder of glycosylation type 1a:

Congenital disorder of glycosylation type 1a as a Disease

Congenital disorder of glycosylation type 1a (medical condition): See Congenital disorder of glycosylation type 1A (disease information).
  »Introduction: Congenital disorder of glycosylation type 1A
  »Symptoms of Congenital disorder of glycosylation type 1A

Congenital disorder of glycosylation type 1a: Related Diseases

Congenital disorder of glycosylation type 1a: Congenital disorder of glycosylation type 1a is listed as a type of (or associated with) the following medical conditions in our database:

More information on medical condition: Congenital disorder of glycosylation type 1A:

Terms associated with Congenital disorder of glycosylation type 1a:

Terms Similar to Congenital disorder of glycosylation type 1a:

Source: Diseases Database

External links related to: Congenital disorder of glycosylation type 1a

Source: Diseases Database

Interesting Medical Articles:

Medical dictionaries:

More Medical Dictionary Topics

  • Diamond
  • Diamond cutting instruments
  • Diamond disc
  • Diamond fuchsin
  • Diamond TYM medium
  • Diamond-Blackfan anemia
  • Diamond-Blackfan syndrome
  • Diamond-shaped murmur
  • Diamorphine
  • Diamthazole dihydrochloride
  • Diana complex

    Find out more

    Search to find out more about Congenital disorder of glycosylation 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