ZELLWEGER LIKE SYNDROMES
\zˈɛlwɛd͡ʒə lˈa͡ɪk sˈɪndɹə͡ʊmz], \zˈɛlwɛdʒə lˈaɪk sˈɪndɹəʊmz], \z_ˈɛ_l_w_ɛ_dʒ_ə l_ˈaɪ_k s_ˈɪ_n_d_ɹ_əʊ_m_z]\
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An autosomal recessive peroxisomal disorder that typically presents in the neonatal period and is usually fatal. Clinical features include hypotonia, dysmorphic skull and facial bones, visual compromise, multifocal seizures, hepatomegaly, biliary dysgenesis, and swallowing difficulties. Pathologically, there are migration deficits of the neocortex and degeneration of white matter tracts. Zellweger-like syndrome refers to conditions that phenotypically resemble neonatal Zellweger syndrome, but occur in childhood or adulthood (From Adams et al., Principles of Neurology, 6th ed, p946)
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Word of the day
Dopamine Acetyltransferase
- An enzyme that catalyzes the of groups from acetyl-CoA to arylamines. They have wide specificity for aromatic amines, particularly serotonin, and can also catalyze acetyl transfer between arylamines without CoA. EC 2.3.1.5.
Nearby Words
- zelek
- zeller's test
- zellweger disease
- zellweger diseases
- zellweger like syndrome
- Zellweger Like Syndromes
- zellweger syndrome
- zellwegers syndrome
- zelmid
- zelok
- zelophehad