beta galactosidase deficiency
[form of gangliosidosis characterized by accumulation of G(M1) ganglioside and oligosaccharides in lysosomes caused by an absence or severe deficiency of the enzyme beta-galactosidase (type A1); three phenotypes of this disorder are infantile (generalized), juvenile, and adult; the infantile form is characterized by skeletal abnormalities, hypotonia, poor psychomotor development, hirsutism, hepatosplenomegaly, and facial abnormalities; the juvenile form features hyperacusis, seizures, and psychomotor retardation; the adult form features progressive intellectual deterioration, involuntary movements, ataxia, and spasticity. ( CSP )]
UMLS (CSP) C0085131- Disease or Syndrome
Relation/PAR: Gangliosidoses
enzyme deficiency
enzyme deficiency
Buy website
Medical Clinic. Optician. Pharmacy. Physician. Travel Agency. Hotel reservation. Child Care. Education. Teachers. Lessons. Tests and Exams. Certification. Shopping Center. Store. Real Estate.Affordable prices from $100.
  |
home
