Article
Two novel gene mutations (Glu174-->Lys, Phe383-->Tyr) causing the "hepatic" form of carnitine palmitoyltransferase II deficiency.
Human genetics - 1 Jul 1996
Yamamoto S, Abe H, Kohgo T, Ogawa A, Ohtake A, Hayashibe H, Sakuraba H, Suzuki Y, Aramaki S, Takayanagi M, Hasegawa S, Niimi H
Abstract excerpt
Carnitine palmitoyltransferase II (CPT II) deficiency has two different clinical forms, one with "hepatic" and the other with "muscular" symptoms. We studied the molecular basis of the "hepatic" form in two Japanese siblings. Their CPT II activity in lymphoblasts was reduced to 3% of the level observed in normal controls. cDNA analysis showed that the proband was a compound heterozygote. One allele carried a new...
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