MULTIPLE PEROXISOMAL DYSFUNCTIONS
\mˈʌltɪpə͡l pˈɛɹəksˌɪsɒmə͡l dɪsfˈʌŋkʃənz], \mˈʌltɪpəl pˈɛɹəksˌɪsɒməl dɪsfˈʌŋkʃənz], \m_ˈʌ_l_t_ɪ_p_əl p_ˈɛ_ɹ_ə_k_s_ˌɪ_s_ɒ_m_əl d_ɪ_s_f_ˈʌ_ŋ_k_ʃ_ə_n_z]\
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A heterogeneous group of inherited metabolic disorders marked by absent or dysfunctional PEROXISOMES. Peroxisomal enzymatic abnormalities may be single or multiple. Biosynthetic peroxisomal pathways are compromised, including the ability to synthesize ether lipids and to oxidize long-chain fatty acid precursors. Diseases in this category include ZELLWEGER SYNDROME; infantile Refsum disease; rhizomelic chondrodysplasia (CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC); hyperpipecolic acidemia; neonatal adrenoleukodystrophy; and ADRENOLEUKODYSTROPHY (X-linked). Neurologic dysfunction is a prominent feature of most peroxisomal disorders.
By DataStellar Co., Ltd
