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Towards a suggestive facial dysmorphism in adenylosuccinate lyase deficiency?
  1. M Holder-Espinasse1,
  2. S Marie2,
  3. G Bourrouillou3,
  4. I Ceballos-Picot4,
  5. M-C Nassogne5,
  6. L Faivre1,
  7. J Amiel1,
  8. A Munnich1,
  9. M-F Vincent2,
  10. V Cormier-Daire1
  1. 1Department of Genetics, Necker-Enfants Malades Hospital, Paris, France
  2. 2Laboratory of Physiological Chemistry, Christian de Duve Institute of Cellular Pathology, and Université Catholique de Louvain, B-1200 Louvain, Belgium
  3. 3Department of Genetics, Purpan Hospital, Toulouse, France
  4. 4Department of Biochemistry, Necker-Enfants Malades Hospital, Paris, France
  5. 5Department of Paediatrics, Necker Enfants Malades Hospital, Paris, France
  1. Correspondence to:
 Dr V Cormier-Daire, Département de Génétique Médicale, Hôpital Necker-Enfants Malades, 149 rue de Sévres, 75743 Paris Cedex 15, France;

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Adenylosuccinate lyase deficiency (MIM 103050, ADSL) is a rare autosomal recessive disease causing severe mental retardation and/or autistic features.1,2 Seizures are often observed (80%),3 varying in age of onset (from newborn to late childhood) and nature (tonic-clonic, “suppression burst” pattern, West syndrome, etc), and are very often resistant to all medication. Around 50% of the children show autistic-like behaviour.4 Microcephaly is rare (1/13 of reported cases). Non-specific anomalies of the brain, such as hypoplasia of the vermis, cerebral atrophy,5 lack of myelination,6 white matter anomalies,7 and lissencephaly4 have often been described.

ADSL is a homotetramer involved in two distinct steps of purine synthesis, namely (1) the conversion of succinylaminoimidazole carboxamide ribotide (SAICAR) into aminoimidazole carboxamide ribotide (AICAR), and (2) the conversion of adenylosuccinate (S-AMP) into adenosine monophosphate (AMP) in the inosine monophosphate transformation pathway (fig 1). The diagnosis of ADSL deficiency is based on the detection of dephosphorylated SAICAR and S-AMP products, that is, S-Ado (succinyladenosine) and SAICAr (succinylaminoimidazole carboxamide riboside). The modified Bratton-Marshall test is the most …

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