Type II
This is considered to be a mild to moderate form of ASLD. They may demonstrate a milder degree of psychomotor retardation and transient visual and auditory contact disturbances Seizures, if they occur, begin later than in Type I, typically between 2 and 4 years old but sometimes as late as 9 years old. Speech is impaired with receptive language skills and nonverbal communication skills being better than expressive language skills. Ataxia may occur and cause increasingly severe gait disturbances. Signs and symptoms
Among the signs and symptoms of adenylosuccinate lyase deficiency are the following:
Aggressive behavior
Microcephaly
Autism
Brachycephaly
Mild Cerebellar hypoplasia
Seizures

Pathophysiology
Adenylosuccinate lyase deficiency is responsible for a range of symptoms that involve psychomotor retardation, often accompanied by epileptic seizures, and autistic features. Two common theories were proposed to account for these effects, the first is that they result from decreased concentrations of purine nucleotides needed for purine biosynthesis. Decreased concentrations, however, could not be found in various tissues taken from ADSL-deficient people, probably because purines are furnished via the purine salvage pathway. The second is the buildup of accumulating succinylpurines causes neurotoxic effects. In the severely affected individuals, the concentration levels of SAICA riboside and S-Ado are comparable, whereas in people with milder forms of the disease, the ratio of S-Ado is more than double that of those more severely affected, while SAICA riboside concentration levels remain comparable.
Papular mucinosis of infancy is a skin condition caused by fibroblasts producing abnormally large amounts of mucopolysaccharides, characterized by skin-colored or translucent papules. : 186

See also
Papular mucinosis
List of cutaneous conditions


== References ==