NEONATAL ADRENOLEUKODYSTROPHIES
\nˈiːə͡ʊnˌe͡ɪtə͡l ɐdɹˈɛnə͡ʊljˌuːkədˌɪstɹəfɪz], \nˈiːəʊnˌeɪtəl ɐdɹˈɛnəʊljˌuːkədˌɪstɹəfɪz], \n_ˈiː__əʊ_n_ˌeɪ_t_əl ɐ_d_ɹ_ˈɛ_n_əʊ_l_j_ˌuː_k_ə_d_ˌɪ_s_t_ɹ_ə_f_ɪ_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
Word of the day
basidiomycota
- comprises fungi bearing the spores on basidium: Gasteromycetes (puffballs); Tiliomycetes (comprising orders Ustilaginales (smuts) and Uredinales (rusts)); Hymenomycetes (mushrooms; toadstools; agarics; bracket fungi); in some classification systems considered a division of kingdom comprises fungi bearing spores on a basidium; includes Gasteromycetes (puffballs) Tiliomycetes comprising the orders Ustilaginales (smuts) and Uredinales (rusts) Hymenomycetes (mushrooms, toadstools, agarics bracket fungi).
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