Screening for metabolic disease in a metropolitan hospital.

Abstract

Screening for metabolic diseases at Children's Hospital of Michigan, Detroit during 1978 and 1979 led to the discovery of 7.5 cases per year, representing a marked increase over previous years. Five cases of organic aciduria were identified during this two-year period by use of urinary gas chromatography. Four of these were found to have methylmalonic aciduria. The increase in detection rate was due to the addition of an organic acid screening technique and greater use of two standard screening tests. The yield of screening by these two tests also improved, which we attribute to the better use of specific criteria. Inclusion of a simple urine screening test for methylmalonic acid is recommended in the workup of infants with episodic vomiting, lethargy, acidosis, or catastrophic illness.

• Authors: I Krieger, M Nigro, Q Taqi
• Journal: American journal of diseases of children (1960) (Am J Dis Child) Vol. 136 Issue 2 Pg. 125-8 (Feb 1982) ISSN: 0002-922X [Print] United States
• PMID: 7064926 (Publication Type: Journal Article)

Chemical References

• Amino Acids
• Methylmalonic Acid

Topics

• Amino Acid Metabolism, Inborn Errors (diagnosis)
• Amino Acids (blood, urine)
• Hospitals, Municipal
• Humans
• Infant, Newborn
• Metabolism, Inborn Errors (diagnosis, epidemiology)
• Methods
• Methylmalonic Acid (urine)
• Michigan
• Risk