Any feedback?
Please rate this page
(literature.php)
(0/150)

BRENDA support

Literature summary extracted from

  • Donti, T.R.; Blackburn, P.R.; Atwal, P.S.
    Holocarboxylase synthetase deficiency pre and post newborn screening (2016), Mol. Genet. Metab. Rep., 7, 40-44 .
    View publication on PubMedView publication on EuropePMC

Application

EC Number Application Comment Organism
6.3.4.10 medicine identifaction of patients with holocarboxylase synthetase deficiency by newborn screening Homo sapiens

Protein Variants

EC Number Protein Variants Comment Organism
6.3.4.10 N511I mutation idientified in 2-year old patient with elevated 3-hydroxyisovalerate, 3-hydroxypropanoate, 3-methylcrotonylglycine, lactate and methylcitrate levels Homo sapiens
6.3.4.10 N570K plus mutation c.1519+5GNA, idientified in 5-month old patient with elevated 3-hydroxyisovalerate, and 3-methylcrotonylglycine levels Homo sapiens
6.3.4.10 R565X/G326E mutation idientified in 18-day old patient with elevated 3-hydroxyisovalerate, 3-hydroxypropanoate, 3-methylcrotonylglycine and methylcitrate levels Homo sapiens
6.3.4.10 R655X mutation identified in 3-year old patient with elevated 3-hydroxybutanoate, 3-hydroxyisovalerate, 3-hydroxypropanoate, 3-methylcrotonylglycine, acetoacetate and lactate levels Homo sapiens

Organism

EC Number Organism UniProt Comment Textmining
6.3.4.10 Homo sapiens
-
-
-