Hawkinsinuria--identification of quinolacetic acid and pyroglutamic acid during an acidotic phase.
J Chromatogr
; 275(2): 237-43, 1983 Jul 08.
Article
en En
| MEDLINE
| ID: mdl-6619234
ABSTRACT
A second Australian family with the genetic disease Hawkinsinuria has been identified. Affected members excrete hawkinsin and cis- and trans-4-hydroxycyclohexylacetic acid. An infant in this family presented with metabolic acidosis and excreted quinolacetic acid and pyroglutamic acid in the urine together with the tyrosine derived phenolic acids reported in the original index case. It is thought that quinolacetic acid is accumulated as a by-product of the partially defective enzyme, 4-hydroxyphenylpyruvate dioxygenase (EC 1.13.11.27) and that pyroglutamic acid indicated lowered glutathione levels.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Pirrolidinonas
/
Ácido Pirrolidona Carboxílico
/
Quinonas
/
Acidosis
/
Errores Innatos del Metabolismo de los Aminoácidos
/
Aminoácidos Sulfúricos
Tipo de estudio:
Diagnostic_studies
Límite:
Humans
/
Infant
País/Región como asunto:
Oceania
Idioma:
En
Revista:
J Chromatogr
Año:
1983
Tipo del documento:
Article