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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
8-9
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pubmed:dateCreated |
2004-12-1
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pubmed:abstractText |
A deficiency of adenylosuccinate lyase (ASDL) is characterised by the accumulation of SAICAriboside (SAICAr) and succinyladenosine (S-Ado) in body fluids. The severity of the clinical presentation correlates with a low S-Ado/SAICAr ratio in body fluids. We report the first British case of ADSL deficiency. The patient presented at 14 days with a progressive neonatal encephalopathy and seizures. There was marked axial and peripheral hypotonia. Brain MRI showed widespread white matter changes. She died at 4 weeks of age. Concentrations of SAICAr and SAdo were markedly elevated in urine, plasma and CSF and the SAdo/SAICAr ratio was low, consistent with the severe phenotype. The patient was compound heterozygous for 2 novel ADSL mutations; c.9 G>C (A3P) and c.572 C>T (R190X).
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Oct
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pubmed:issn |
1525-7770
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
23
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1231-3
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pubmed:meshHeading |
pubmed-meshheading:15571235-Adenosine,
pubmed-meshheading:15571235-Adenylosuccinate Lyase,
pubmed-meshheading:15571235-Aminoimidazole Carboxamide,
pubmed-meshheading:15571235-Catalysis,
pubmed-meshheading:15571235-Exons,
pubmed-meshheading:15571235-Fatal Outcome,
pubmed-meshheading:15571235-Female,
pubmed-meshheading:15571235-Heterozygote,
pubmed-meshheading:15571235-Humans,
pubmed-meshheading:15571235-Infant, Newborn,
pubmed-meshheading:15571235-Mutation,
pubmed-meshheading:15571235-Phenotype,
pubmed-meshheading:15571235-Purine-Pyrimidine Metabolism, Inborn Errors,
pubmed-meshheading:15571235-Purines,
pubmed-meshheading:15571235-Ribonucleotides
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pubmed:year |
2004
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pubmed:articleTitle |
Adenylosuccinate lyase deficiency--first British case.
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pubmed:affiliation |
Purine Research Lab and Paediatric Department, Guy's Hospital, London, UK.
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pubmed:publicationType |
Journal Article,
Case Reports
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