| ADENYLOSUCCINASE DEFICIENCY (ADSL) | |
| ADENYLOSUCCINASE ; ADENYLOSUCCINATE LYASE DEFICIENCY | |
|
103050
OMIM = Online Mendelian Inheritance of Men | |
|
46 | |
| adenylosuccinase, adenylosuccinate lyase | |
| 4.3.2.2 | |
| rare (<1:1000000) autosomal recessive mutation in the ADSL gene positive Bratton-Marshall-Test 3 different forms: - fatal neonatal - type I (severe form) - type II (mild/moderate form) | |
| Laboratory findings | Succinyladenosine inc (cerebrospinal fluid) Succinyladenosine inc (urine) Succinylamino-imidazole carboxamide riboside inc (urine) 2-Deoxyadenosine normal/inc (urine) Adenosine normal/inc (urine) Adenylosuccinase dec (liver) Adenylosuccinase dec (kidney) Bratton-Marshall test (urine) inc (urine) Succinyladenosine inc (dried blood spot (DB) Succinylamino-imidazole carboxamide riboside inc (cerebrospinal fluid) Succinylamino-imidazole carboxamide riboside inc (plasma) |
| Symptoms | ataxia behavior, autism or autistic-like cerebellar atrophy or hypoplasia epilepsy hypotonia psychomotor retardation respiratory distress respiratory insufficiency CT, brain, abnormalities [-] developmental delay dysmorphism dystonia encephalopathy growth retardation, poor growth hypertonia, spasticity intellectual disability/intellectual developmental disorder intrauterine growth retardation low set ears mental retardation microcephaly (<2 SD for age) MRI, brain, abnormalities [-] nystagmus onset, infancy onset, neonatal seizures spastic diplegia/quadriplegia/tetraplegia strabismus |