| Individual ID |
00001126 |
| Associated disease |
GA1 |
| Inheritance |
Familial, autosomal recessive |
| Age/Onset |
- |
| Diagnosis/Initial |
- |
| Age/Examination |
- |
| Diagnosis/Definite |
- |
| Age/Diagnosis |
00y01m |
| Phenotype/Onset |
Progressive macrocephaly (2.4cm above 97th percentile) (HP:0004481), frontal bossing (HP:0002007), intermittently occuring sun-setting eyes (HP:0012470) |
| Phenotype details |
Examination at onset: no signs of increased intrcranial pressure, generalized hypotonia (HP:0008935), exaggerated tendon stretch reflexes, ankle clonus (HP:0011448); Disease course: during following 04m subsiding of neurologic signs, good psychomotor development with slight retrun of head circumference toward 97th percentile; At age 03m: no progression of frontotemporal atrophy in cranial ultrasonography; At age 06m: hospitalization due to acute encephalopathic crisis (HP:0006846) after febrile respiratory tract infection with obstructive bronchitis, worsening of crisis despite of immediate emergency treatment with subsequent bilateral striatal destruction (as seen in MRI); Outcome thereafter: dystonic-dyskinetic movement disorder (HP:0001276, HP:0100660) with axial hypotonia (HP:0009062), loss of head control and other previously acquired motor skills; partial recovery during following months but persistence of severe motor handicap |
| Protein |
- |
| Biochem |
GA(urine):10,000-14,000 mmol/mol creatinine; 3-OH-GA(urine):2690 mmol/mol creatinine; GA(plasma):22.3 µmol/L; total L-carnitine(radioenzymatic assay):12.5 µmol/L; free carnitine:9.2 µmol/L |
| Enzyme/Activity |
GCDH activity: 1% 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 |
2019-03-19 09:55:25 +01:00 (CET) |
