Diagnosis of Urea Cycle Disorders

Palmer, Trevor; Oberholzer, V. G.

doi:10.1177/000456327701400128

Cited by 3 publications

(1 citation statement)

References 8 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…If these initial tests do not provide a firm diagnosis, the blood and urine are examined for amino-acids, the urine for organic (carboxylic) acids, and the blood for ammonia. Some authorities favour the determination of the urinary urea-to-ammonia ratio as a preliminary screening test for the hyperammonaemias (Palmer and Oberholzer, 1975).…”

mentioning

confidence: 99%

A Comprehensive Screening Method for Detecting Organic Acidurias and other Metabolic Diseases in Acutely Sick Infants and Children

1977

View full text Add to dashboard Cite

A protocol is described for the comprehensive screening of acutely ill neonates and infants for inherited metabolic diseases, with particular reference to the organic acidurias. A group of simple initial tests provide positive pointers to metabolic disorders, leading to comprehensive screening tests for the aminoacidopathies and organic acidurias. Specimen chromatograms of urinary organic acids in the normal neonate, infant, and child, obtained using the methods described, are given and compared with that from the urine of a child with previously unreported 2-hydroxyglutaric aciduria. The place of the scheme in the management of inherited metabolic disease in the perinatal period and its relationship to other screening programmes are discussed. It is estimated that use of the protocol would allow the detection of about one-half of the known inborn errors of metabolism, including the aminoacidopathies, the organic acidurias, the hyperammonaemias, and several disorders of carbohydrate metabolism, many of which present acutely in the neonate and infant.

show abstract

mentioning

confidence: 99%