Hawkinsinuria in two families

M. Borden; J. Holm; J. Leslie; L. Sweetman; W. L. Nyhan; L. Fleisher; H. Nadler; D. Lewis; C. R. Scott

doi:10.1002/ajmg.1320440113

Hawkinsinuria in two families

M. Borden, J. Holm, J. Leslie, L. Sweetman, W. L. Nyhan, L. Fleisher, H. Nadler, D. Lewis, C. R. Scott

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19 Scopus citations

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.

Original language	English (US)
Pages (from-to)	52-56
Number of pages	5
Journal	American Journal of Medical Genetics
Volume	44
Issue number	1
DOIs	https://doi.org/10.1002/ajmg.1320440113
State	Published - 1992
Externally published	Yes

Keywords

autosomal dominant
hawkinsinuria
metabolic acidosis
sulfur-containing amino acids

ASJC Scopus subject areas

Genetics(clinical)

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10.1002/ajmg.1320440113

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title = "Hawkinsinuria in two families",

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.",

keywords = "autosomal dominant, hawkinsinuria, metabolic acidosis, sulfur-containing amino acids",

author = "M. Borden and J. Holm and J. Leslie and L. Sweetman and Nyhan, {W. L.} and L. Fleisher and H. Nadler and D. Lewis and Scott, {C. R.}",

year = "1992",

doi = "10.1002/ajmg.1320440113",

language = "English (US)",

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pages = "52--56",

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TY - JOUR

T1 - Hawkinsinuria in two families

AU - Borden, M.

AU - Holm, J.

AU - Leslie, J.

AU - Sweetman, L.

AU - Nyhan, W. L.

AU - Fleisher, L.

AU - Nadler, H.

AU - Lewis, D.

AU - Scott, C. R.

PY - 1992

Y1 - 1992

N2 - 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.

AB - 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.

KW - autosomal dominant

KW - hawkinsinuria

KW - metabolic acidosis

KW - sulfur-containing amino acids

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AN - SCOPUS:0026649477

SN - 0148-7299

VL - 44

SP - 52

EP - 56

JO - American Journal of Medical Genetics

JF - American Journal of Medical Genetics

IS - 1

ER -

Hawkinsinuria in two families

Abstract

Keywords

ASJC Scopus subject areas

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