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Literature summary for 1.3.8.6 extracted from

  • Muehlhausen, C.; Christensen, E.; Schwartz, M.; Muschol, N.; Ullrich, K.; Lukacs, Z.
    Severe phenotype despite high residual glutaryl-CoA dehydrogenase activity: a novel mutation in a Turkish patient with glutaric aciduria type I (2003), J. Inherit. Metab. Dis., 26, 713-714.
    View publication on PubMed

Protein Variants

Protein Variants Comment Organism
M263V analysis of a naturally occurring mutation in a Turkish patient with glutaric aciduria type I Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
additional information Homo sapiens enzyme deficiency leads to glutaric aciduria type I with accumulation of glutarate and 3-hydroxyglutarate with subsequent neuronal destruction during metabolic crises triggered by catabolic stress, treatment with isocaloric glucose and carnitine infusion and suspension of protein intake can recover the patient from apathy ?
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Organism

Organism UniProt Comment Textmining
Homo sapiens
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patient suffering glutaric aciduria type I
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Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
additional information enzyme deficiency leads to glutaric aciduria type I with accumulation of glutarate and 3-hydroxyglutarate with subsequent neuronal destruction during metabolic crises triggered by catabolic stress, treatment with isocaloric glucose and carnitine infusion and suspension of protein intake can recover the patient from apathy Homo sapiens ?
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?

Synonyms

Synonyms Comment Organism
GCDH
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Homo sapiens