Phenotype #0000155508
| Individual ID |
00207718 |
| Associated disease |
GA1 |
| Inheritance |
Familial, autosomal recessive |
| Age/Onset |
00y05m14d |
| Diagnosis/Initial |
- |
| Age/Examination |
- |
| Diagnosis/Definite |
- |
| Age/Diagnosis |
- |
| Phenotype/Onset |
Acute onset of left-sided hemiparesis with spasticity (HP:0011099) during mild intercurrent illness |
| Phenotype details |
Symptoms:
Age 01y09m: no speech (HP:0001344), marked spastic diplegia (HP:0001264)
Age 11y: Profound developm. disability, failure to thrive (HP:0001508) despite of G-tube feeding (HP:0011471) (weight <3rd percentile), significant dystonia (HP:0001276) and spasticity (HP:0001257), central hypotonia (HP:0011398), scoliosis (HP:0002650), joint contractures (HP:0002828), thin extremities with flexion contractures (HP:0001371) of arms and legs, bilateral ankle clonus (HP:0011448), hip dislocation (HP:0002827), mild dolichocephaly (HP:0000268), intermittend exotropia (HP:0000577), roving-eye movements, high-arched palate (HP:0000218), intermittend facial grimacing (HP:0000273) and bruxism (HP:0003763)
CT(age 05m14d):normal; MRI(age 05m14d): Bilateral increased signal in lentiform nuclei of basal ganglia, NO frontotemporal atrophy |
| Protein |
- |
| Biochem |
GA(urine):13mmol/mol creatinine; 3-OH-GA(urine):108mmol/mol creatinine; total carnitine:44.3µmol/L; free carnitine:21.8µmol/L; analysis of newborn blood spot after 19m: glutarylcarnitine:0.12µmol/L |
| Enzyme/Activity |
10% (1st measurement), 25% (2nd measurement) of current normal control (fibroblasts) |
| Owner name |
Isabelle Rinke |
| Database submission license |
No license selected |
| Created by |
Isabelle Rinke |
| Date created |
2018-11-30 12:17:15 +01:00 (CET) |
| Date last edited |
N/A |
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