Phenotype #0000343231
| Individual ID |
00454590 |
| Associated disease |
GA1 |
| Inheritance |
Unknown |
| Age/Onset |
- |
| Diagnosis/Initial |
- |
| Age/Examination |
- |
| Diagnosis/Definite |
- |
| Age/Diagnosis |
10y00m |
| Phenotype/Onset |
- |
| Phenotype details |
Birth: pregnancy and birth unremarkable;
Clinical history: surgical correction of obstructive mega-ureter detected after pyelonephritis with consecutive malfunction of right kidney;
Phenotype: 2y4m non-progressive ataxia and developmental delay; 10y never had any deteriorations upon fasting
or intercurrent illnesses and that the movement disorder had improved significantly over time; problems with second language; behavioural issues with peers; without tremor) but a remaining tendency to fall compared with tests at 3y; normal height, weight, head circumfence;unremarkable walking and running; frequently showed short nodding of the head or dystonic movements of one hand; tightrope walking was slightly instable and the finger-to-nose test was unremarkable;
Imaging: cranial MRI 2y8m: laterodorsal mild increased signal intensity around the putamen in T2 and FLAIR; |
| Protein |
- |
| Biochem |
plasma aminoacids and urinary organicacids unremarkable;11y: free carnitine (blood)37.5µmol/l, glutarylcarnitine (blood) 0.3 µmol/l, C5DC/C4 (blood) 5.09, C5DC/C8 (blood) 6.73, C5DC/C12 (blood) 0.84 |
| 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 11:22:56 +02:00 (CEST) |
| Date last edited |
N/A |
|
