Assessment
Questionnaire

Have a symptom?
See what questions
a doctor would ask.
 
Dictionary » Lysosomal hexosaminidase A deficiency
 

Lysosomal hexosaminidase A deficiency

Introduction: Lysosomal hexosaminidase A deficiency

Description of Lysosomal hexosaminidase A deficiency

Lysosomal hexosaminidase A deficiency: An autosomal recessive inherited gangliosidosis characterized by the onset in the first 6 months of life of an exaggerated startle response, delay in psychomotor development, hypotonia (followed by spasticity), visual loss, and a macular cherry red spot. Hexosaminidase A (see BETA-N-ACETYLHEXOSAMINIDASE) is deficient, leading to the accumulation of GM2 ganglioside in neurons of the central nervous system and retina. This condition is strongly associated with Askenazic Jewish ancestory. (Menkes, Textbook of Pediatric Neurology, 5th ed pp89-96)
Source: Diseases Database

Lysosomal hexosaminidase A deficiency: Related Topics

These medical condition or symptom topics may be relevant to medical information for Lysosomal hexosaminidase A deficiency:

Terms associated with Lysosomal hexosaminidase A deficiency:

Terms Similar to Lysosomal hexosaminidase A deficiency:

Source: Diseases Database

External links related to: Lysosomal hexosaminidase A deficiency

Source: Diseases Database

Interesting Medical Articles:

Medical dictionaries:

More Medical Dictionary Topics

  • PT
  • Pt element
  • PTA
  • PTA deficiency
  • PTA stain
  • PTAH
  • Ptarmic
  • Ptarmus
  • PTC
  • PTC protein
  • PTC syndrome
  • PTCA
  • PTCA (percutaneous transluminal coronary angioplasty)
  • Ptd

    Find out more

    Search to find out more about Lysosomal hexosaminidase A deficiency:

      
      
    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