Adenylosuccinase Deficiency

What is Adenylosuccinase Deficiency?

Adenylosuccinase Deficiency is a rare disease. It is also known as Adenylosuccinate Lyase Deficiency Adsl Deficiency ASL deficiency.

Adenylsuccinate lyase deficiency is a defect in purine de novo synthesis pathway. Stone et al., (1992) demonstrated a mutation in the adenylosuccinate lyase (ASL) gene in a brother and two sisters with severe mental retardation with autistic features. Further clinical details were not given. Other patients with deficiency of the protein have been described. Jaeken et al., (1988) reported eight patients who all had mental retardation and autistic features. Other abnormalities included cerebellar hypoplasia and muscle wasting. Some patients have presented with early neonatal seizures and have died within the first few months of life, where as a number of mildly retarded adults have also been reported (Race et al., 2000). Van den Bergh et al., (1991) reviewed the biochemistry of the condition. Succinyladenosine and succinylaminoimidazole carboxamide riboside accumulates in body tissues. Jaeken (1994) has stated that all children with any degree of psychomotor retardation should have the Bratton-Marshall test on the urine to exclude this condition. Holder-Espinasse et al., (2002) suggested that there might be a characteristic facial appearance consisting of brachycephaly, prominent metopic sutures, a small nose with anteverted nostrils, a long smooth philtrum and a thin upper lip. The dysmorphic features in the photos shown were rather subtle, however. Photographs were published by Edery et al., (2003), and the children were clearly dysmorphic. These authors commented on intrafamilial variability (regression in one and autistic features in 2 of her sibs). Two German cases were reported by Kohler et al., (1999). One had severe early epileptic encephalopathy. Lethal fetal and early neonatal presentation were reported by Mouchegh et al., (2007). Two sisters reported by Gitiaux et al., (2009) had behavioural features of Angelman syndrome.
The gene has been mapped to 22q13.1 (Stone et al., 1992, Fon et al., 1993). Marie et al., (2000) reported prenatal diagnosis by mutation analysis which resulted in the detection of one affected fetus, and one heterozygote fetus. Characterisation of full-length cDNA and further mutations were reported by Kmoch et al., (2000).
Marie et al., (2002) demonstrated mutations in the nuclear respiratory factor 2 binding site in the 5' untranslated region of the gene in three patients, suggesting that this might be quite a common type of mutation.
Edery et al., (2003) reported three sibs from an inbred Portugese pedigree. The proband had marked psychomotor regression and progressive cerebellar vermis atrophy, wheras the other two sibs patients presented mainly autistic features. The unusual intrafamilial variation was highlighted. Mutation analysis of the ADSL gene revealed the presence of a homozygous R426H mutation.

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* This information is courtesy of the L M D.

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What gene changes cause Adenylosuccinase Deficiency?

The syndrome is inherited in the following inheritance pattern/s:

Autosomal Recessive - Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms but have a 25% chance of passing the copies of the gene mutations onto each of their children.


In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation that occurs during the reproductive process.

OMIM Number - 103050 (please check the OMIM page for updated information)

The syndrome can be caused by mutations in the following gene/s location/s:
ADSL - 22q13.1

What are the main symptoms of Adenylosuccinase Deficiency?

The typical symptoms of the syndrome are:
Happy demeanor, Infantile onset, Severe global developmental delay, Prominent metopic ridge, Strabismus, Thin upper lip vermilion, Microcephaly, Poor eye contact, Nystagmus, Opisthotonus, Seizure, Self-mutilation, Wide mouth, Autosomal recessive inheritance, Smooth philtrum, Gait ataxia, CNS hypomyelination, Hyperactivity, Growth delay, Global developmental delay, Inappropriate laughter, Inability to walk, Delayed speech and language development, Short nose, Anteverted nares, Low-set ears, Long philtrum, Intellectual disability, Myoclonus, Muscular hypotonia, Skeletal muscle atrophy, Aggressive behavior, Cerebral hypomyelination, Cerebral atrophy, Cerebellar atrophy, Brisk reflexes, Brachycephaly, Autism

How does someone get tested for Adenylosuccinase Deficiency?

The initial testing for Adenylosuccinase Deficiency can begin with facial genetic analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the type of genetic testing needed. A consultation with a genetic counselor and then a geneticist will follow.

Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.

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