NEONATAL ADRENOLEUKODYSTROPHY
\nˈiːə͡ʊnˌe͡ɪtə͡l ɐdɹˈɛnə͡ʊljˌuːkədˌɪstɹəfi], \nˈiːəʊnˌeɪtəl ɐdɹˈɛnəʊljˌuːkədˌɪstɹəfi], \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_i]\
Sort: Oldest first
-
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
Proto Oncogene Proteins c erbB 2
- cell surface protein-tyrosine kinase that is found to be overexpressed in significant number adenocarcinomas. It has extensive homology can heterodimerize EGF EPIDERMAL GROWTH FACTOR), 3 receptor (RECEPTOR, 3) and the 4 receptor. Activation of erbB-2 receptor occurs during heterodimer formation with a ligand-bound erbB family members. EC 2.7.11.-.