See Also: syndrome, martin-bell(medicine)
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syndrome, martin-bell (medicine) and 5-HT (medicine)


syndrome, martin-bell (medicine)


syndrome, martin-bell
Better known as the fragile X syndrome, the most common heritable form of mental retardation. Fragile x syndrome is due to mutation (changes) at the fragile x site and so perforce is x-linked (carried on the x chromosome). Although it is usually more severe in males than females, the syndrome is due to a dynamic mutation (a trinucleotide repeat) that can change in length and hence in severity from generation to generation, from person to person, and even within a given person. The fragile x syndrome is known as the martin-bell syndrome in honor of their discovery of it in 1943.


5-HT (medicine)


5-HT -->
5-hydroxytryptamine
<biochemistry, hormone> A neurotransmitter and hormone (176 kD), found in vertebrates, invertebrates and plants. It is synthesised from the amino acid tryptophan by enterochromaffin cells in the gut and bronchi. It is metabolised to 5-HIAA in the liver and then excreted in the urine.

Serotonin is measured on a venipuncture specimen in cases of suspected carcinoid syndrome (where it will be elevated). The normal range is 101 to 283 ng/ml.

Acronym: 5-HT