Phenotype #0000343230
| Individual ID |
00454589 |
| Associated disease |
GA1 |
| Inheritance |
Unknown |
| Age/Onset |
- |
| Diagnosis/Initial |
- |
| Age/Examination |
- |
| Diagnosis/Definite |
- |
| Age/Diagnosis |
04y00m |
| Phenotype/Onset |
- |
| Phenotype details |
Early life: pregnancy, birth and development unremarkable;
Phenotype: 18m delayed motor development; 4y dystonic movements, infection, poor oral intake, clear deterioration of the movement disorder; rapidly regained previous skills and showed intermittent titubation and an instable gait, with a tendency to fall upon intermittent short dystonic posturing of the legs; 8y distinct dystonic movement disorder and learning difficulties;
Imaging: cranial MRI: increased signal intensity bilaterally around the putamen in axial T1 and T2; |
| Protein |
- |
| Biochem |
Urinary organicacids&serum acylcarnitines typical profile for GA-1; 5y: free carnitine(blood)42.5µmol/l,glutarylcarnitine (blood)0.16µmol/l,C5DC/C4(blood)0.54,C5DC/C8(blood)4.12,C5DC/C12(blood)2.91 |
| Enzyme/Activity |
- |
| Owner name |
Sabrina Oeser |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Sabrina Oeser |
| Date created |
2024-09-20 11:08:53 +02:00 (CEST) |
| Date last edited |
N/A |
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