Phenotype #0000157492
| Individual ID |
00208883 |
| Associated disease |
GA1 |
| Inheritance |
Familial, autosomal recessive |
| Age/Onset |
00y09m |
| Diagnosis/Initial |
- |
| Age/Examination |
- |
| Diagnosis/Definite |
- |
| Age/Diagnosis |
00y09m |
| Phenotype/Onset |
- |
| Phenotype details |
Cause of consultation: Focal tonic-clonic seizures during rota-virus infection at age 09m, neurologic & neuropsychological examinations unremarkable; EEG(at admission): normal; MRI (at admission): bilaterally restricted diffusion in basal ganglia (consistent with acute infarcts), mildly dilated lateral ventricles, arachnoid cyst in left Sylvian fissure; After 15d of hospitalization: weakness of right-hand; MRI:new infarction extending to internal capsule genus; Follow-up: delayed motor and language development (HP:0001270, HP:0000750) (walking without support at age 02y, speaks only a few words at age 03y02m), persistent mild right hemiparesis (HP:0001269) (for more details see full text) |
| Protein |
- |
| Biochem |
GA(urine):0µmol/L; 3-OH-GA(urine):0µmol/L; total carnitine(blood): 37µmol/L; free carnitine(blood): 3.07µmol/L; glutarylcarnitine(blood): 0.6µmol/L |
| Enzyme/Activity |
- |
| Owner name |
Isabelle Rinke |
| Database submission license |
No license selected |
| Created by |
Isabelle Rinke |
| Date created |
2018-12-19 13:27:53 +01:00 (CET) |
| Date last edited |
N/A |
|
