PEROXISOMAL DISORDER
\pˈɛɹəksˌɪsɒmə͡l dɪsˈɔːdə], \pˈɛɹəksˌɪsɒməl dɪsˈɔːdə], \p_ˈɛ_ɹ_ə_k_s_ˌɪ_s_ɒ_m_əl d_ɪ_s_ˈɔː_d_ə]\
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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
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Platidiam
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