SACCHAROPINE DEHYDROGENASE DEFICIENCY DISEASE
\sˈakɐɹˌɒpa͡ɪn dˌiːha͡ɪdɹˈə͡ʊd͡ʒne͡ɪs dɪfˈɪʃənsi dɪzˈiːz], \sˈakɐɹˌɒpaɪn dˌiːhaɪdɹˈəʊdʒneɪs dɪfˈɪʃənsi dɪzˈiːz], \s_ˈa_k_ɐ_ɹ_ˌɒ_p_aɪ_n d_ˌiː_h_aɪ_d_ɹ_ˈəʊ_dʒ_n_eɪ_s d_ɪ_f_ˈɪ_ʃ_ə_n_s_i d_ɪ_z_ˈiː_z]\
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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
- saccharomycosis
- saccharomycosis hommis
- saccharonate
- saccharone
- saccharonic
- Saccharopine Dehydrogenase Deficiency Disease
- saccharopine dehydrogenases
- saccharopolyspora
- saccharopolyspora erythraea
- saccharorrhea
- saccharorrhea cutanea