In genetics, the term carrier describes an organism that carries two different forms of a recessive gene (alleles of a gene linked to a recessive trait) and is thus heterozygous for that the recessive gene. Although carriers may act to convey and...

An asymptomatic carrier (or just carrier), is a person who is infected with an infectious disease or carries the abnormal gene of a recessive genetic disorder, but displays no symptoms. Although unaffected by the disease or the disorder themselves,...

Dopamine transporter (DAT) binding is decreased in MachadoJoseph disease (MJD) patients. To further investigate the DAT activity in asymptomatic MJD (aMJD) gene carriers, we performed this prospective study using ^sup 99m^Tc-TRODAT-1 ([^sup 99m^Tc ][2[[2-[[[3-(4-chlorophenyl)-8-methyl-8-azabicyclo[3,2,1 ]oct-2-yl ]-methyl ](2-mercaptoethyl)amino ]ethyl ]amino ]ethane-thiolato(3-)-N2,N2',S2,S2 ]oxo-[lR-(exo-exo) ])) brain SPECT...

Background: The heme precursors porphobilinogen (PBG) and 5-aminolevulinic acid (ALA) accumulate during overt crises of acute intermittent porphyria (AIP), and high excretion of these metabolites often continues in the asymptomatic phase. Methods: We measured concentrations of PBG and ALA and investigated the correlation...