Amino Acid Profile and Lactate Pyruvate Ratio: Potential Adjunct Markers for Differentiating Inborn Errors of Metabolism.
Amino-acid profile
Hyperammonemia
Inborn errors of metabolism
Lactate–pyruvate ratio
Mitochondrial disorder
Journal
Indian journal of clinical biochemistry : IJCB
ISSN: 0970-1915
Titre abrégé: Indian J Clin Biochem
Pays: India
ID NLM: 8708303
Informations de publication
Date de publication:
Oct 2020
Oct 2020
Historique:
received:
07
11
2018
accepted:
15
06
2019
entrez:
5
10
2020
pubmed:
6
10
2020
medline:
6
10
2020
Statut:
ppublish
Résumé
Inborn errors of metabolism (IEM) lead to the physical and mental disability and death of infants, which can be prevented if treated early. Hence it is imperative in diagnosing these disorders at the earliest. The study is planned to differentiate suspected IEM by quantifying the lactate-pyruvate ratio (L/P ratio), Amino acid profiling by HPLC in addition to blood ammonia using the basic methodology in comparison to globally accepted mass spectroscopy technique and specific enzyme activity assays. The objective of this study is not to compete with the existing gold standard methodology rather makes the best of basic diagnostic modalities available. Five cases out of 100 referred cases of IEM suspicion showed the altered pattern of Aminogram correlating with high L/P ratio and Hyperammonemia, which were positive cases, as confirmed by the clinician who referred. Hence study parameters could be used as preliminary protocol to investigate and screen the IEM.
Identifiants
pubmed: 33013012
doi: 10.1007/s12291-019-00840-1
pii: 840
pmc: PMC7502630
doi:
Types de publication
Journal Article
Langues
eng
Pagination
430-435Informations de copyright
© Association of Clinical Biochemists of India 2019.
Déclaration de conflit d'intérêts
Conflict of interestThe authors declare that they have no conflict of interest.
Références
Adv Exp Med Biol. 1999;467:697-704
pubmed: 10721121
Indian J Clin Biochem. 2002 Jul;17(2):7-26
pubmed: 23105346
Mol Genet Metab. 2008 May;94(1):16-37
pubmed: 18243024
Pediatr Res. 1991 Jul;30(1):1-4
pubmed: 1909777
J Biomed Biotechnol. 2010;2010:340849
pubmed: 20589068