| Entry |
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| Name |
Adenylosuccinate lyase deficiency
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| Description |
Adenylosuccinate lyase deficiency is an autosomal-recessive disorder of the purine de novo synthesis pathway. Mental retardation is a major manifestation and most patients have seizures.
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| Category |
Inherited metabolic disease; Nervous system disease
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| Pathway |
| Purine metabolism | | Alanine, aspartate and glutamate metabolism |
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| Gene |
ADSL; adenylosuccinate lyase [HSA: 158] [KO: K01756]
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| Marker |
Succinyladenosine [CPD: C03794]
Succinylaminoimidazole carboxamide ribotide (SAICAR) [CPD: C04823]
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| Drug |
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| Other DBs |
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| Reference |
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| Authors |
Spiegel EK, Colman RF, Patterson D |
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| Title |
Adenylosuccinate lyase deficiency. |
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| Journal |
Mol Genet Metab 89:19-31 (2006) |
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| Reference |
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| Authors |
Ciardo F, Salerno C, Curatolo P |
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| Title |
Neurologic aspects of adenylosuccinate lyase deficiency. |
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| Journal |
J Child Neurol 16:301-8 (2001) |
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| Reference |
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| Authors |
Nassogne M, Henrot B, Aubert G, Bonnier C, Marie S, Saint-Martin C, Van den Berghe G, Sebire G, Vincent M |
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| Title |
Adenylosuccinase deficiency: an unusual cause of early-onset epilepsy associated with acquired microcephaly. |
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| Journal |
Brain Dev 22:383-6 (2000) |
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