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Old 08-12-2011
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Correct Answer Infant keeps biting his fingers

An 8 month old child is brought to a pediatrician because of the mother's concern about the boy's tendency to compulsively bite his fingers. The mother reports that she noticed yellow-orange crystals in his diapers but has not mentioned them to anyone. A genetic defect in which of the following pathways should be suspected ?

A) Aromatic amino acid metabolism
B) Branched chain amino acid metabolism
C) Purine metabolism
D) Pyrimidine metabolism
E) Sulfur containing amino acid metabolism
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Old 08-12-2011
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Quote:
Originally Posted by Hope2Pass View Post
An 8 month old child is brought to a pediatrician because of the mother's concern about the boy's tendency to compulsively bite his fingers. The mother reports that she noticed yellow-orange crystals in his diapers but has not mentioned them to anyone. A genetic defect in which of the following pathways should be suspected ?

A) Aromatic amino acid metabolism
B) Branched chain amino acid metabolism
C) Purine metabolism
D) Pyrimidine metabolism
E) Sulfur containing amino acid metabolism
pyrimidine metabolism
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Old 08-12-2011
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Isn't this Purine metabolism?

Lesh-Nyhan?
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Old 08-12-2011
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C)- purine metabolism---I guess its Lesch nyhan syndrome- child is having self mutilating behaviour..
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Old 08-12-2011
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c) purine mtb
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Old 08-12-2011
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C)purine metabolism pathway...coz its Leish nahian syndrome...due to self mutilation
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Old 08-12-2011
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Quote:
Originally Posted by Hope2Pass View Post
An 8 month old child is brought to a pediatrician because of the mother's concern about the boy's tendency to compulsively bite his fingers. The mother reports that she noticed yellow-orange crystals in his diapers but has not mentioned them to anyone. A genetic defect in which of the following pathways should be suspected ?

A) Aromatic amino acid metabolism
B) Branched chain amino acid metabolism
C) Purine metabolism
D) Pyrimidine metabolism
E) Sulfur containing amino acid metabolism
purine salvage defect sure its C.... lesch nhyan syndrome defiency of HGPRT and ptient has tendency of self mutilation of finger and lips ... .
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Old 08-12-2011
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C) Purine metabolism
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Old 08-13-2011
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Correct Answer C) Purine Metabolism.

The correct answer is C) Purine Metabolism.

Explanation -


The disease is Lesch-Nyhan syndrome, and the yellow-orange crystals of uric acid in the diaper are an important, but often neglected, clue to early diagnosis. Lesch-Nyhan syndrome is characterized by a tremendous overproduction of purines, because the reutilization of purines via the purine salvage pathway is blocked by a near total absence of hypoxanthine-guanine phosphoribosyl-transferase (HGPRT) activity. Patients with this severe X-linked disease, for reasons that are unknown, show aggressive behavior that leads to self-mutilation. They may also develop gouty arthritis or gouty nephropathy.

Phenylketonuria is an example of a disorder of aromatic amino acid metabolism (choice A) characterized by mental retardation.

Maple syrup urine disease is an example of a disorder of branched chain amino acids (choice B) causing motor abnormalities and seizures.

Orotic aciduria is an example of a disorder of pyrimidine metabolism (choice D), characterized by retarded growth and development as well as megaloblastic anemia.

Homocystinuria is an example of a disorder of sulfur-containing amino acids (choice E), characterized by mental retardation, dislocation of the lenses, osteoporosis, and thromboses.
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