Hawkinsinuria in two families.
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.
Borden
M
M
Department of Pediatrics, University of California San Diego, La Jolla 92093-0609.
Holm
J
J
Leslie
J
J
Sweetman
L
L
Nyhan
W L
WL
Fleisher
L
L
Nadler
H
H
Lewis
D
D
Scott
C R
CR
D000138:Acidosis; D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics*; D000603:Amino Acids, Sulfur / Q000652:urine*; D003509:Cyclohexanecarboxylic Acids / Q000378:metabolism; D053138:Cyclohexenes; D004586:Electrophoresis / Q000379:methods; D005183:Failure to Thrive; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D007223:Infant; D008297:Male; D010375:Pedigree; D010667:Phenylpyruvic Acids / Q000378:metabolism; D011761:Pyrrolidonecarboxylic Acid / Q000378:metabolism; D014443:Tyrosine / Q000378:metabolism
C017889:4-hydroxycyclohexylacetic acid; D000603:Amino Acids, Sulfur; D003509:Cyclohexanecarboxylic Acids; D053138:Cyclohexenes; D010667:Phenylpyruvic Acids; C010590:4-hydroxyphenylpyruvic acid; D014443:Tyrosine; C014578:hawkinsin; D011761:Pyrrolidonecarboxylic Acid