CLASSIC PELIZAEUS MERZBACHER DISEASE
\klˈasɪk pˈɛlɪzˌiːəs mˈɜːzbɑːkə dɪzˈiːz], \klˈasɪk pˈɛlɪzˌiːəs mˈɜːzbɑːkə dɪzˈiːz], \k_l_ˈa_s_ɪ_k p_ˈɛ_l_ɪ_z_ˌiː__ə_s m_ˈɜː_z_b_ɑː_k_ə d_ɪ_z_ˈiː_z]\
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A rare, slowly progressive disorder of myelin formation. Subtypes are referred to as classic, congenital, transitional, and adult forms of this disease. The classic form is X-chromosome linked, has its onset in infancy and is associated with a mutation of the proteolipid protein gene. Clinical manifestations include TREMOR, spasmus nutans, roving eye movements, ATAXIA, spasticity, and NYSTAGMUS. Death occurs by the third decade of life. The congenital form has similar characteristics but presents early in infancy and features rapid disease progression. Transitional and adult subtypes have a later onset and less severe symptomatology. Pathologic features include patchy areas of demyelination with preservation of perivascular islands (trigoid appearance). (From Menkes, Textbook of Child Neurology, 5th ed, p190)
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Procollagen Proline Dioxygenase
- mixed-function oxygenase that catalyzes hydroxylation prolyl-glycyl-containing-peptide, usually in protocollagen, hydroxyprolylglycyl-peptide. The enzyme utilizes molecular oxygen with a concomitant oxidative decarboxylation of 2-oxoglutarate to succinate. EC 1.14.11.2.