DEFICIENCY DISEASE HEXOSAMINIDASE A
\dɪfˈɪʃənsi dɪzˈiːz hˈɛksəsˌamɪnˌɪde͡ɪs ˈe͡ɪ], \dɪfˈɪʃənsi dɪzˈiːz hˈɛksəsˌamɪnˌɪdeɪs ˈeɪ], \d_ɪ_f_ˈɪ_ʃ_ə_n_s_i d_ɪ_z_ˈiː_z h_ˈɛ_k_s_ə_s_ˌa_m_ɪ_n_ˌɪ_d_eɪ_s ˈeɪ]\
Sort: Oldest first
-
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)
By DataStellar Co., Ltd
Word of the day
Health Personnel Attitudes
- Attitudes of personnel toward their patients, other professionals, the medical care system, etc.
Nearby Words
- deficiencies, fructose 1,6 bisphosphatase
- deficiencies, fructose 1,6 diphosphatase
- deficiencies, respiratory chain
- deficiency
- deficiency disease
- Deficiency Disease Hexosaminidase A
- deficiency disease, carbamoyl phosphate synthase
- deficiency disease, galactosylceramide beta galactosidase
- deficiency disease, lysosomal alpha 1,4 glucosidase
- deficiency disease, phenylalanine hydroxylase, severe
- deficiency diseases