HYPERPIPECOLIC ACIDEMIA
\hˌa͡ɪpəpa͡ɪpkˈɒlɪk ɐsa͡ɪdˈiːmi͡ə], \hˌaɪpəpaɪpkˈɒlɪk ɐsaɪdˈiːmiə], \h_ˌaɪ_p_ə_p_aɪ_p_k_ˈɒ_l_ɪ_k ɐ_s_aɪ_d_ˈiː_m_iə]\
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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
