Biag, Irian Joseph L.

4Bio2
#7

Mendelian Genetics Homework

2. What disease is coded by the Phenotype MIM number: a. 203500
- ALKAPTONURIA
3. Give the gene/ locus name of the disease
- HOMOGENTISIC ACID OXIDASE DEFICIENCY
4. Summarize not more than 5 sentences the basic characteristic of the disease?
Alkaptonuria, found on chromosome 3q13, is an inborn error of metabolism
characterized by accumulation of homogentisic acid. It is an autosomal recessive metabolic
disorder due to a deficiency of homogentisic acid 1,2 dioxygenase at molecular level. This means
that the body cannot process
can lead to leading to darkened urine, pigmentation of connective tissue, joint and spine arthritis,
destruction of cardiac valves, and urolithiasis. According to clinical study, Severity of disease
increases at age 30 above and rapidly increases in men than in women.
5. Give the complete bibliography entry of the first journal that described the disease
Abe, Y., Oshima, N., Hatanaka, R., Amako, T., Hirohata, R. Thirteen cases of alkaptonuria
from one family tree with special reference to osteo-arthrosis alkaptonuria. J. Bone
Joint Surg. Am. 42: 817-831, 1960. [PubMed:13848727, related citations]
6. Summarize in not more than 5 sentences an example of the latest available treatment or
management of the disease
Until now, no effective treatment regimen has yet been developed for this disorder.
However, use of genetic engineering by replacing the missing enzyme would be a
solution. Also, a case study that 2(-2-nitro-4-trifluoromethylbenzoyl)-1,3-
cyclohexanedione (NTBC), a potent inhibitor of p-hydroxyphenylpyruvate dioxygenase,
which catalyzes the formation of homogentisic acid from p-hydroxyphenylpyruvic acid
was adopted as a possible therapeutic agent for alkaptonuria.
7. Give the complete bibliography entry of the journal described on no.6
Suzuki, Y., Oda, K., Yoshikawa, Y., Maeda, T., Suzuki, T. A novel therapeutic trial of
homogentisic aciduria in a murine model of alkaptonuria. J. Hum. Genet. 44: 79-84,
1999. [PubMed: 10083729, related citations]