Earwax: A potentially useful medium to identify inborn errors of metabolism?
| Autor: | Maureen Cleary, Mel McSweeney, Stefan Krywawych, Simon Heales |
|---|---|
| Rok vydání: | 2020 |
| Předmět: |
Research Report
medicine.medical_specialty lcsh:QH426-470 Endocrinology Diabetes and Metabolism lcsh:Diseases of the endocrine glands. Clinical endocrinology Biochemistry Genetics and Molecular Biology (miscellaneous) chemistry.chemical_compound Alloisoleucine acylcarnitines Internal medicine Internal Medicine Medicine earwax postmortem chemistry.chemical_classification Free carnitine amino acids Creatinine lcsh:RC648-665 guanidino metabolites business.industry Fatty acid oxidation defects Research Reports Metabolism Isovaleric acidaemia Peroxisome medicine.disease Amino acid lcsh:Genetics Endocrinology chemistry business |
| Zdroj: | JIMD Reports, Vol 52, Iss 1, Pp 72-78 (2020) JIMD Reports |
| ISSN: | 2192-8312 |
| Popis: | Earwax was investigated as a source to identify patients' different inborn errors of metabolism (IEMs). Acylcarnitines, amino acids, and guanidino metabolites were measured from 28 treated patients with 11 different metabolic disorders including 3 organic acidaemias, 2 fatty acid oxidation defects, 6 amino acid disorders, and 1 peroxisomal abnormality. On the basis of the ratio of different acylcarnitine species relative to free carnitine, isovaleric acidaemia, methylmalonic acidaemia, and long‐chain hydroxyacylCoA dehydrogenase deficiency could be discriminated from the other disorders. For amino acids, neither creatinine nor alternative amino acid proved suitable reference standards against which results could be expressed. However, argininosuccinate and alloisoleucine were present in significantly elevated concentrations in two patients with argininosuccinate lyase deficiency and two patients with branched‐chain ketoacid dehydrogenase deficiency. This study has raised the potential of earwax for investigation of IEMs and may also have role in postmortem investigations. In view of its limited invasiveness, earwax also may have a role as a material to monitor treatment responses and compliance in patients with IEMs. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Plný text