Prolidase deficiency: report of a second case with quantitation of the excessively excreted amino acids.

Abstract

The second documented case of prolidase deficiency is presented. Clinical manifestations include chronic otitis media and sinusitis, dermatitis, and splenomegaly. Prolidase is undetectable in the white blood cells of the patient and near or less than the lower range of normal in each parent. The peptide chromatographic pattern of the urine is similar to that of the previously reported patient with prolidase deficiency. The quantity of amino acids excreted in urine per 24 hours is at least three times that of the upper range of normal (of these same amino acids) for the patients age group. More than 80% of the total amino acids excreted are in peptide form. The proline-to-hydroxyproline ratio suggests that the dipeptides are the catabolic products of other proteins in addition to collagen.

• Authors: G F Powell, A Kurosky, R M Maniscalco
• Journal: The Journal of pediatrics (J Pediatr) Vol. 91 Issue 2 Pg. 242-6 (Aug 1977) ISSN: 0022-3476 [Print] United States
• PMID: 874681 (Publication Type: Case Reports, Journal Article, Research Support, U.S. Gov't, P.H.S.)

Chemical References

• Amino Acids
• Peptide Hydrolases

Topics

• Amino Acids (urine)
• Child, Preschool
• Chronic Disease
• Dermatitis (enzymology)
• Female
• Humans
• Leukocytes (enzymology)
• Otitis Media (enzymology)
• Peptide Hydrolases (deficiency)
• Renal Aminoacidurias (enzymology)
• Sinusitis (enzymology)
• Splenomegaly (enzymology)