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Literature summary for 4.3.2.2 extracted from

  • Gitiaux, C.; Ceballos-Picot, I.; Marie, S.; Valayannopoulos, V.; Rio, M.; Verrieres, S.; Benoist, J.F.; Vincent, M.F.; Desguerre, I.; Bahi-Buisson, N.
    Misleading behavioural phenotype with adenylosuccinate lyase deficiency (2009), Eur. J. Hum. Genet., 17, 133-136.
    View publication on PubMedView publication on EuropePMC
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Protein Variants

Protein Variants Comment Organism
additional information enzyme deficiency due to homozygous missense mutation T674C leading to the amino acid exchange M225T in the exon 6 of the ADSL gene causes a phenotype with global developmental delay, motor apraxia, severe speech deficits, seizures and behavioural features, which combines excessive laughter, a very happy disposition, hyperactivity, a short attention span, the mouthing of objects, tantrums and stereotyped movements that give a behavioural profile mimicking Angelman syndrome, the patients have an increased succinyladenosine/5-aminoimidazole-4-(N-succinylcarboxamide) ribonucleotide ratio of 1.6 compared to wild-type humans, overview Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
additional information Homo sapiens adenylosuccinate lyase deficiency is a rare autosomal disorder of de novo purine synthesis, which results in the accumulation of succinylpurines in body fluids. Patients with adenylosuccinate lyase deficiency show a variable combination of mental retardation, epilepsy and autistic features, overview ?
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Organism

Organism UniProt Comment Textmining
Homo sapiens P30566 gene ADSL
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Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
additional information adenylosuccinate lyase deficiency is a rare autosomal disorder of de novo purine synthesis, which results in the accumulation of succinylpurines in body fluids. Patients with adenylosuccinate lyase deficiency show a variable combination of mental retardation, epilepsy and autistic features, overview Homo sapiens ?
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 ?

Synonyms

Synonyms Comment Organism
ADSL
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 Homo sapiens