PERIODIC HYPERLYSINEMIA
\pˌi͡əɹɪˈɒdɪk hˌa͡ɪpəlˌɪsa͡ɪnˈiːmi͡ə], \pˌiəɹɪˈɒdɪk hˌaɪpəlˌɪsaɪnˈiːmiə], \p_ˌiə_ɹ_ɪ__ˈɒ_d_ɪ_k h_ˌaɪ_p_ə_l_ˌɪ_s_aɪ_n_ˈiː_m_iə]\
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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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