Phenotype #0000155450
| Individual ID |
00207660 |
| Associated disease |
GA1 |
| Inheritance |
Familial, autosomal recessive |
| Age/Onset |
49y |
| Diagnosis/Initial |
- |
| Age/Examination |
- |
| Diagnosis/Definite |
- |
| Age/Diagnosis |
55y |
| Phenotype/Onset |
- |
| Phenotype details |
Symptoms (starting at age 49y): Lower extremity numbness and paresthesias (HP:0003401) with pain at night, lower extremity restlessness (HP:0012452) and involuntary movements (HP:0004305), incontinence (HP:0000020), bilateral lower extremity spasticity (HP:0001257), (muscle tone increased slightly more on right than left), mildly spastic gait (HP:0002064) (tandem walk not possible); Additional diseases: Crohn's disease (HP:0100280) (starting at age 45y); Neuroimaging: White matter abnormalities associated with subependymal nodules, temporal lobe hypoplasia, prominent CSF spaces, mildly generalized cortical atrophy, prominent ventricular system |
| Protein |
- |
| Biochem |
GA(urine):344mmol/mol creatinine;3-OH-GA(urine):160mmol/mol creatinine;glutarylcarnitine(serum):0.28nmol/ml;total carnitine(serum):6µmol/L;free carnitine(serum):4µmol/L;amino acids(plasma):normal |
| Enzyme/Activity |
- |
| Owner name |
Isabelle Rinke |
| Database submission license |
No license selected |
| Created by |
Isabelle Rinke |
| Date created |
2018-11-27 13:36:15 +01:00 (CET) |
| Date last edited |
N/A |
|
