| Individual ID |
00001086 |
| Associated disease |
GA1 |
| Inheritance |
Familial, autosomal recessive |
| Age/Onset |
00y07m |
| Diagnosis/Initial |
Acute neurologic dysfunction associated with destructive lesion of basal ganglia |
| Age/Examination |
10y (10 years) |
| Diagnosis/Definite |
- |
| Age/Diagnosis |
- |
| Phenotype/Onset |
Acute encephalopathy |
| Phenotype details |
Disease course: At age 07m: diarrhea (HP:00020149 followed by hypotonia (HP:0008947), prostration and right-sided clonic seizures (HP:0001250) with tonic gaze deviation to the right, during the following days: progressive dystonic tetraparesis (HP:0002273), irritabilty (HP:0000737); Disease course: two more febrile illnesses with presentation of hypotonia, increased dystonic posturing and unusal sleepyness; At age 01y11m: severe dystonic tetraparesis, poor social interaction, growth arrest at 3rd percentile, head circumference: 90th percentile; At present (age 10y): severely affected; CSF analysis(age 07m): normal; EEG(age 07m): 5 cycles/sec theta rhythm with interhemispheric asymmetry, delta waves on the right; MRI(age 07m): increased signal in basal ganglia (T2); CT(at age 07m15d): persistence of areas of low attenuation in basal ganglia |
| Protein |
- |
| Biochem |
GA(urine): 4mmol/mol creatinine; 3-OH-GA(urine): 43mmol/mol creatinine; carnitine(plasma): normal |
| Enzyme/Activity |
GCDH activity (fibroblasts): 9% of controls |
| Owner name |
Katrin Hinderhofer |
| Database submission license |
Creative Commons Attribution 4.0 International |
| Created by |
Julia Lopez |
| Date created |
2013-04-17 17:21:21 +02:00 (CEST) |
| Date last edited |
2019-03-07 14:18:20 +01:00 (CET) |
