LP200103-2
Hawkinsin
Active
Description
Hawkinsin ((2-L-cystein-S-yl-1,4-dihydroxycyclohex-5-en-1-yl)-acetic acid) is an intermediate metabolite in the 4-hydroxyphenylpyruvate hydroxylase reaction, and is elevated in the urine of patients with an autosomal dominant inborn error of metabolism called hawkinsinuria. Hawkinsinuria is caused by heterozygous mutation in the HPD gene, which is on chromosome 12q24, and encodes 4-hydroxyphenylpyruvic acid dioxygenase. Metabolic acidosis and tyrosinemia are transient, and symptoms improve within the first year of life. Some patients have been successfully treated with a special diets, such as tyrosine and phenylalanine restriction or general protein restriction, which resulted in metabolic correction and rapid catch-up growth.[OMIM: 140350] Source: Regenstrief LOINC
Basic Part Properties
- Part Name
- Hawkinsin
- Part Display Name
- Hawkinsin
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2015-08-14
- Construct for LOINC Short Name
- Hawkinsin
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | 霍金素 Synonyms: 酪氨酸的代谢产物; |
| es-ES | Spanish (Spain) | Hawkinsin |
| it-IT | Italian (Italy) | Hawkinsin |
| tr-TR | Turkish (Turkey) | Hawkinsin |
| fr-FR | French (France) | Hawkinsine |
| el-GR | Greek (Greece) | Χωκινσίνη Synonyms: Χωκινσίνη |
LOINC Copyright
Copyright © Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://