Phenotype #0000155416
| Individual ID |
00207603 |
| Associated disease |
GA1 |
| Inheritance |
Familial, autosomal recessive |
| Age/Onset |
19y |
| Diagnosis/Initial |
- |
| Age/Examination |
- |
| Diagnosis/Definite |
- |
| Age/Diagnosis |
19y |
| Phenotype/Onset |
- |
| Phenotype details |
Cause of consultation: 4 month history of recurrent unspecific headaches; Symptoms at examination: Minor horizontal nystagmus (HP:0000666), upward gaze palsy, convergence paralysis, slowing of left hand's fine motor function, hyperactive tendon reflexes, average intelligence (Mini-Mental State Examination score=29, IQ=94) with lower results in nonverbal testing than verbal testing and slight memory impairment (HP:0002354), NO macrocephaly, NO dysarthria, NO tremor, NO ataxia; medical and developm. history otherwise unremarkable; At last follow-up (age 31y): asymptomatic; MRI: Increased signal intensity (T2) in supratentorial white matter with sparing of U-fibers (severe leukencephalopathy), No atrophy, No macrocephaly ; Diffusion trace echoplanar imaging sequence: Reduced diffusion in all described regions of pathologic signal intensity; EEG: General paroxysmal dysrhythmia |
| Protein |
- |
| Biochem |
GA(urine);1,274mmol/mol creatinine; 3-OH-GA(urine): 134mmol/mol creatinine; carnitine(serum):4µmol/L; glutarylcarnitine(serum):0.18µmol/L; lactate(serum):2.5mmol/L; pyruvate(serum):223µmol/L |
| Enzyme/Activity |
GCDH-acitivity(fibroblasts): absent |
| Owner name |
Isabelle Rinke |
| Database submission license |
No license selected |
| Created by |
Isabelle Rinke |
| Date created |
2018-11-26 15:51:36 +01:00 (CET) |
| Date last edited |
2019-01-07 18:35:29 +01:00 (CET) |
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