PDHC DEFICIENCY DISEASES
\pˌiːdˌiːˌe͡ɪt͡ʃsˈiː dɪfˈɪʃənsi dɪzˈiːzɪz], \pˌiːdˌiːˌeɪtʃsˈiː dɪfˈɪʃənsi dɪzˈiːzɪz], \p_ˌiː_d_ˌiː__ˌeɪ_tʃ_s_ˈiː d_ɪ_f_ˈɪ_ʃ_ə_n_s_i d_ɪ_z_ˈiː_z_ɪ_z]\
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An inherited metabolic disorder caused by deficient enzyme activity in the PYRUVATE DEHYDROGENASE COMPLEX, resulting in deficiency of acetyl CoA and reduced synthesis of acetylcholine. Two clinical forms are recognized: neonatal and juvenile. The neonatal form is a relatively common cause of lactic acidosis in the first weeks of life and may also feature an erythematous rash. The juvenile form presents with lactic acidosis, alopecia, intermittent ATAXIA, SEIZURES, and an erythematous rash. (From J Inherit Metab Dis 1996;19 (4):452-62) Autosomal recessive and X-linked forms are caused by mutations in the genes for the three different enzyme components of this multisubunit pyruvate dehydrogenase complex. One of the mutations at Xp22.2-p22.1 in the gene for the E1 alpha component of the complex leads to LEIGH DISEASE.
By DataStellar Co., Ltd
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Nearby Words
- pdgfr1
- pdgfr2
- pdgfrb
- pdh phosphatase
- pdhc deficiency disease
- PDHC Deficiency Diseases
- pdl
- pds ii (ethicon)
- pe-tsai
- pea
- pea bean