Multiple Carboxylase Deficiency

diagram_for_carboxylase_deficiency

Multiple carboxylase deficiency is a recessive inherited metabolic disorder. Two main forms of multiple carboxylase deficiency are known to occur:21, 55


Defects in either of these two enzymes (biotinidase and holocarboxylase synthetase) will cause biotin deficiency, which can lead to serious health problems) if untreated. This is because biotin is an essential nutrient involved in metabolic functions crucial to many body systems, including the synthesis of fatty acids, the breakdown of amino acids, and the formation of glucose from carbon-based molecules other than glucogen.55

Biotin is also needed for DNA stability and repair, as well as regulating expression of certain genes. Lack of biotin can cause illnesses that range from thinning hair to neuromuscular disorders, skin rash, vision and hearing loss, and may increase the risk for cancer, heart disease, and diabetes.7

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Sometimes referred to as biotin-responsive immunodeficiency or co-carboxylase deficiency.21, 55
Also referred to as inborn error of metabolism.21, 55
The form glucose is stored in within the body because it is easily broken down into glucose when energy is required.55
 
 
 
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