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Clinically affected;presented at 3 months of age with hypoglycemia;hyperammonemia;mild liver dysfunction and 3-hydroxydicarboxylic aciduria;diagnosed at age 13 with recurrent hypoglycemia;progressive myopathy;and peripheral neuropathy;plasma acylcarnitine profile characteristic of LCHAD deficiency and enzyme testing showed complete trifunctional protein deficiency patient #3 in Am J Hum Genet 58:979-988 (1996) - sex in this publication was incorrectly listed as male;donor subject is a compound heterozygote;one allele has a G>A transition at nucleotide 182 of the HADHB gene 182G>A resulting in a substitution of histidine for arginine at codon 61 Arg61His (R61H) and a second allele has a G>A transition at nucleotide 740 of the HADHB gene 740G>A resulting in a substitution of histidine for arginine at codon 247 Arg247His (R247H) .
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