A new sulfur amino acid, named hawkinsin, identified in a baby with transient tyrosinemia and her mother.
Clin Chim Acta
; 76(3): 345-56, 1977 May 02.
Article
em En
| MEDLINE
| ID: mdl-858207
ABSTRACT
An unknown compound present in the urine of a girl with prolonged transient tyrosinemia and her mother was isolated and identified as (2-L-cystein-S-yl-1,4-dihydroxycyclohex-5-en-1-yl)-acetic acid (IVa). The new amino acid was named hawkinsin (Haw) and characterized by gas chromatography-mass spectrometry (GC-MS) of its penta-trimethylsilyl (TMS) derivative and of its desulfuration components. Haw was compared with the synthetic reference compound using GC-MS, IR, TLC, PC, ion-exchange chromatogrpahy and high-voltage electrophoresis. IVa and (2,6-bis-L-cystein-S-yl-1,4-dihydroxycyclohexyl-1)-acetic acid were synthesized from 4-quinolacetic acid, the latter was prepared in two different ways. It is postulated that Haw originates from an intermediate in the 4-hydroxy-phenylpuruvate hydroxylase reaction (EC 1.14.2.2), and that mother and child are heterozygous for an inborn error of metabolism characterized by a defect in this hydroxylase system, which is unable to rearrange the intermediate to homogentisic acid.
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Base de dados:
MEDLINE
Assunto principal:
Oxigenases
/
Tirosina
/
Erros Inatos do Metabolismo dos Aminoácidos
/
Aminoácidos Sulfúricos
/
4-Hidroxifenilpiruvato Dioxigenase
Tipo de estudo:
Prognostic_studies
Limite:
Adult
/
Female
/
Humans
/
Infant
Idioma:
En
Ano de publicação:
1977
Tipo de documento:
Article