INFANTILE REFSUMS DISEASE
\ˈɪnfəntˌa͡ɪl ɹɪfsˈʌmz dɪzˈiːz], \ˈɪnfəntˌaɪl ɹɪfsˈʌmz dɪzˈiːz], \ˈɪ_n_f_ə_n_t_ˌaɪ_l ɹ_ɪ_f_s_ˈʌ_m_z d_ɪ_z_ˈiː_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
Nearby Words
- infantile papular acrodermatitis
- infantile paralysis
- infantile pseudoleucemia, pseudoleucaemia
- infantile purulent colostrum
- infantile refsum disease
- Infantile Refsums Disease
- infantile sandhoff disease
- infantile scurvy
- infantile severe myoclonic epilepsy
- infantile sialic acid storage disease
- infantile spasm