Notice: Users may be experiencing issues with displaying some pages on stanfordhealthcare.org. We are working closely with our technical teams to resolve the issue as quickly as possible. Thank you for your patience.
 

Learn about the flu shot, COVID-19 vaccine, and our masking policy »

Stanford Health Care

HAWKINSINURIA IN 2 FAMILIES AMERICAN JOURNAL OF MEDICAL GENETICS Borden, M., Holm, J., Leslie, J., Sweetman, L., Nyhan, W. L., Fleisher, L., Nadler, H., Lewis, D., Scott, C. R. 1992; 44 (1): 52-56

Abstract

Hawkinsinuria, a disorder of tyrosine metabolism has been documented in two families in the United States, in one of which there was clear evidence of autosomal dominant inheritance. Metabolic acidosis and failure to thrive appear to be confined to infancy. Tyrosyl metabolites and 5-oxoproline are also found only in infancy, while 4-hydroxycyclohexylacetic acid was present only with time. The disease may be detected by organic acid analysis or by staining an electropherogram for sulfur containing compounds.

View details for Web of Science ID A1992JJ63400012

View details for PubMedID 1519651