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Abnormal urinary acylglycine profile

MedGen UID:
868656
•Concept ID:
C4023057
•
Finding
HPO: HP:0012073

Definition

An abnormal distribution of N-acylglycines in the urine. There are numerous different N-acylglycines, and this term refers to pathological alterations in their level or distribution. [from HPO]

Recent clinical studies

Etiology

Automated, simplified GC/MS data processing system for organic acidemia screening and its application.
Yamaguchi S, Kimura M, Iga M, Fu XW, Ohie T, Yamamoto T
Southeast Asian J Trop Med Public Health 1999;30 Suppl 2:174-80. PMID: 11400763

Diagnosis

Automated, simplified GC/MS data processing system for organic acidemia screening and its application.
Yamaguchi S, Kimura M, Iga M, Fu XW, Ohie T, Yamamoto T
Southeast Asian J Trop Med Public Health 1999;30 Suppl 2:174-80. PMID: 11400763
Analysis of abnormal urinary metabolites in the newborn period in medium-chain acyl-CoA dehydrogenase deficiency.
Bennett MJ, Coates PM, Hale DE, Millington DS, Pollitt RJ, Rinaldo P, Roe CR, Tanaka K
J Inherit Metab Dis 1990;13(5):707-15. doi: 10.1007/BF01799572. PMID: 2246856

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