Tuesday, July 12, 2016

Alkaptonuria notes and mnemonic

Today, Hari sent me his notes on Alkaptonuria.

Alkaptorr makes him think of helicopter! And he imagines a black ox sitting in it!

Alkaptonuria mnemonic 
Alkaptonuria (black urine disease, black bone disease, or alcaptonuria) is a rare inherited genetic disorder in which the body cannot process the amino acids phenylalanine and tyrosine.
Mnemonic: Black ox in helicopter

It is caused by a mutation in the HGD gene for the enzyme homogentisate 1,2-dioxygenase; if a person inherits abnormal copies from each parent (it is a recessive condition) the body accumulates an intermediate substance called homogentisic acid in the blood and tissues. Homogentisic acid and its oxidated form alkapton are excreted in the urine, giving it an unusually dark color.
Mnemonic: Helicopter in air - Alkaptonuria is an inherited condition that causes urine to turn black when exposed to air.

Alkaptonuria notes for PG
The accumulating homogentisic acid causes damage to cartilage (ochronosis, leading to osteoarthritis) and heart valves as well as precipitating as kidney stones and stones in other organs. Symptoms usually develop in people over thirty years old, although the dark discoloration of the urine is present from birth.

That's all!

Related post: Alkaptonuria and Albinism enzymes mnemonic

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