05-01-2015, 07:44 PM
A 2 y girl is taken to her MD beause of progressive muscular wekness and recurent episides of lever encephalopathy.The test show low level carnitin.What is corect :
a/Pathologic depposition of iron is often seen in mucle biopsy
b/almost all victims to this A-Recessive conditon respond to oral carnitin suplement
c/a delition mutation in the gene for carnitinpalmitoyltransferase would result in an entirely diffent phenotype
d/a diet restrictet to short and medium chain fatty acids may prove useful
e/carnitin is the transporter for short and medium chain FA in to the mitochondias
a/Pathologic depposition of iron is often seen in mucle biopsy
b/almost all victims to this A-Recessive conditon respond to oral carnitin suplement
c/a delition mutation in the gene for carnitinpalmitoyltransferase would result in an entirely diffent phenotype
d/a diet restrictet to short and medium chain fatty acids may prove useful
e/carnitin is the transporter for short and medium chain FA in to the mitochondias
