LYSINE ALPHA KETOGLUTARATE REDUCTASE DEFICIENCY DISEASE
\lˈa͡ɪsa͡ɪn ˈalfə kˈɛtəɡlˌuːtɐɹˌe͡ɪt ɹɪdˈʌkte͡ɪs dɪfˈɪʃənsi dɪzˈiːz], \lˈaɪsaɪn ˈalfə kˈɛtəɡlˌuːtɐɹˌeɪt ɹɪdˈʌkteɪs dɪfˈɪʃənsi dɪzˈiːz], \l_ˈaɪ_s_aɪ_n ˈa_l_f_ə k_ˈɛ_t_ə_ɡ_l_ˌuː_t_ɐ_ɹ_ˌeɪ_t ɹ_ɪ_d_ˈʌ_k_t_eɪ_s d_ɪ_f_ˈɪ_ʃ_ə_n_s_i d_ɪ_z_ˈiː_z]\
Definitions of LYSINE ALPHA KETOGLUTARATE REDUCTASE DEFICIENCY DISEASE
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A group of inherited metabolic disorders which have in common elevations of serum LYSINE levels. Enzyme deficiencies of alpha-aminoadipic semialdehyde dehydrogenase and the SACCHAROPINE DEHYDROGENASES have been associated with hyperlysinemia. Clinical manifestations include mental retardation, recurrent emesis, hypotonia, lethargy, diarrhea, and developmental delay. (From Menkes, Textbook of Child Neurology, 5th ed, p56)
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Nearby Words
- lysimeter
- lysin
- lysine
- lysine 2 oxoglutarate dioxygenase
- lysine acetate
- Lysine Alpha Ketoglutarate Reductase Deficiency Disease
- lysine bradykinin
- lysine carboxypeptidase
- lysine hydrochloride
- lysine hydroxylase
- lysine intolerance