6.3.4.10	D571N	mutation within the biotin-binding region, HCS deficiency, biotin-responsive multiple carboxylase deficiency	1392	
6.3.4.10	G518E	mutation within the biotin-binding region, HCS deficiency, biotin-responsive multiple carboxylase deficiency	1392	
6.3.4.10	L216R	mutation outside the biotin-binding region, HCS deficiency, biotin-responsive multiple carboxylase deficiency	1392	
6.3.4.10	additional information	identification of naturally occuring mutations leading to multiple carboxylase deficiency, MCD, an autosomal recessive metabolic disorder caused by HLCS deficiency, overview	703282	
6.3.4.10	N511I	mutation idientified in 2-year old patient with elevated 3-hydroxyisovalerate, 3-hydroxypropanoate, 3-methylcrotonylglycine, lactate and methylcitrate levels	745784	
6.3.4.10	N570K	plus mutation c.1519+5GNA, idientified in 5-month old patient with elevated 3-hydroxyisovalerate, and 3-methylcrotonylglycine levels	745784	
6.3.4.10	R508W	mutation within the biotin-binding region, HCS deficiency, biotin-responsive multiple carboxylase deficiency	1392	
6.3.4.10	R565X/G326E	mutation idientified in 18-day old patient with elevated 3-hydroxyisovalerate, 3-hydroxypropanoate, 3-methylcrotonylglycine and methylcitrate levels	745784	
6.3.4.10	R655X	mutation identified in 3-year old patient with elevated 3-hydroxybutanoate, 3-hydroxyisovalerate, 3-hydroxypropanoate, 3-methylcrotonylglycine, acetoacetate and lactate levels	745784	
6.3.4.10	V363D	mutation outside the biotin-binding region, HCS deficiency, biotin-responsive multiple carboxylase deficiency	1392