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Literature summary for 6.3.4.10 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
Search for more literature for 6.3.4.10

Application

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

Protein Variants

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

Organism UniProt Comment Textmining
Homo sapiens
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