MENKES KINKY HAIR SYNDROME
\mˈɛŋks kˈɪŋki hˈe͡ə sˈɪndɹə͡ʊm], \mˈɛŋks kˈɪŋki hˈeə sˈɪndɹəʊm], \m_ˈɛ_ŋ_k_s k_ˈɪ_ŋ_k_i h_ˈeə s_ˈɪ_n_d_ɹ_əʊ_m]\
Sort: Oldest first
-
An inherited disorder of copper metabolism transmitted as an X-linked trait and characterized by the infantile onset of HYPOTHERMIA, feeding difficulties, hypotonia, SEIZURES, bony deformities, pili torti (twisted hair), and severely impaired intellectual development. Defective copper transport across plasma and endoplasmic reticulum membranes results in copper being unavailable for the synthesis of several copper containing enzymes, including PROTEIN-LYSINE 6-OXIDASE; CERULOPLASMIN; and SUPEROXIDE DISMUTASE. Pathologic changes include defects in arterial elastin, neuronal loss, and gliosis. (From Menkes, Textbook of Child Neurology, 5th ed, p125)
By DataStellar Co., Ltd
Nearby Words
- menispermum verrucosum
- menispin
- meniver
- meniver, minever, miniver
- menkes disease
- Menkes Kinky Hair Syndrome
- menkes syndrome
- menn
- menna
- menninger
- mennonist