multiple carboxylase deficiency

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multiple carboxylase deficiency,

an autosomal-recessive inherited aminoacidopathy correctable by biotin therapy and caused by deficiency of either of two enzymes necessary for activity of several biotin-containing carboxylases. It is characterized by metabolic ketoacidosis, excretion of organic acids in the urine, hyperammonemia, and variable manifestation of breathing difficulties, hypotonia, seizures, ataxia, alopecia, skin rash, and developmental delay. The neonatal form, caused by deficiency of holocaroxylase synthetase, may progress rapidly to coma; the juvenile form, caused by deficiency of biotinase, is characterized additionally by sensorineural deafness and optic atrophy.

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No references found			multilocular cyst multilocular cyst of kidney multimeric multimodal therapy multinodular multinodular goiter multinuclear multinuclear leukocyte multinucleate multinucleated multiorgan transplantation multipara multiparity multiparous multipenniform multiphase generator multiphasic screening Multiphilia multiplanar reformatting multiple multiple acyl CoA dehydrogenation deficiency Multiple Affect Adjective Check-List multiple autoimmune disorder multiple benign cystic epithelioma multiple birth multiple carboxylase deficiency multiple cartilaginous exostoses Multiple chemical sensitivity multiple chemical sensitivity disorder multiple chemical sensitivity/sensitivities syndrome multiple cholesterol emboli syndrome multiple endocrine adenomatosis multiple endocrine deficiency syndrome multiple endocrine neoplasia Multiple Endocrine Neoplasia Syndromes Multiple endocrine neoplasia type 1 multiple epiphyseal dysplasia multiple exostoses multiple factor multiple family therapy multiple fission multiple fracture multiple gene multiple glandular deficiency syndrome Multiple Hamartoma Syndrome multiple idiopathic hemorrhagic sarcoma Multiple Lentigines Syndrome multiple lipomatosis multiple malformation syndromes multiple mononeuropathy multiple mucosal neuroma syndrome			Multiple birth Multiple birth Multiple birth Multiple birth Multiple birth offspring Multiple birth offspring Multiple Births Multiple Births Multiple Births Families Association Multiple Births Twins Triplets Multiple Births Twins Triplets Multiple Bit Differential Detection Multiple Block Allocation Multiple Block-Coded Modulation multiple body trauma Multiple Bomb Rack Multiple Bonds Multiple bone involvement multiple boot Multiple Borrowers, Multiple Lenders Multiple Building Selection Multiple Burr-Hole Operation Multiple Bus Network Multiple C4I System Test and Training Tool Multiple Cable Network Systems Multiple Cable Penetrator Multiple Call Arrangement multiple call transmission multiple cancellous exostoses Multiple Capture Single Image multiple carboxylase deficiency Multiple Carrier Time Division Multiple Access Multiple Carrier-Time Division Multiple Access multiple cartilaginous e's multiple cartilaginous e's multiple cartilaginous e's multiple cartilaginous exostoses multiple cartilaginous exostoses multiple cartilaginous exostosis multiple cartilaginous exostosis multiple cartridges multiple casualty incident multiple casualty incident multiple casualty incident multiple casualty incident multiple causation multiple causation multiple causation multiple causation multiple causation Multiple Cause of Death Multiple Cause of Death Files Multiple Cell Radial Filter Multiple Cerebral Embolic Model Multiple Channel Aural Reception Multiple Channel Control Unit Multiple channel per carrier Multiple Channel Reservation Multiple Channels Per Carrier Multiple Chemical Sensibility Multiple Chemical Sensibility

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