Phenotype #0000166547
| Individual ID |
00218101 |
| Associated disease |
GA1 |
| Inheritance |
Familial, autosomal recessive |
| Age/Onset |
- |
| Diagnosis/Initial |
- |
| Age/Examination |
- |
| Diagnosis/Definite |
- |
| Age/Diagnosis |
00y00m10d |
| Phenotype/Onset |
- |
| Phenotype details |
Birth and neonatal period: Born at term after prolonged labour with oxytocin induced delivery (Kristeller manoeuvre performed); soon after birth severe asphyxia (HP:0012768) and asystoly (HP:0001695) requiring immediate cardiopulmonary resuscitation & endotracheal intubation with manual ventilation for 30min;
1.5 hours after birth stuporous state with fixed gaze, epileptic seizures (HP:0001250) and repetitive tiny clonic limb movement; Over the next hours development of severe axial muscle hypotonia (HP:0009062), increased limb extensor muscle tone (archaic reflexes and crying absent); 12 hours after birth transient moderate increase of renal function parameters; 1st day of life: neonatal tonic or clonic seizures with cyanosis (HP:0000961); During 1st week of life persistence of stuporous state, dystonia (HP:0001276) and recurrent myoclonic jerks;
Disease course: development of severe encephalopathy (HP:0007105) with drug resistant epileptic seizures and dystonia despite of treatment after diagnosis, G-tube feeding and i.v. feeding throughout 1st year of life due to poor feeding (HP:0008872) and chronic intestinal pseudo-obstructive syndrome;
MRI(age 01m): slight signal reduction in thalamic nuclei and basal ganglia, apparent volume loss, enlargement of subarachnoid cisternal spaces, widening of Synvian fssure with poor opercularisation, expansion of pericerebral fluid spaces anterior to temporal lobes, ventriculomegaly; For more details see full text |
| Protein |
- |
| Biochem |
GA(urine) & 3-OH-GA(urine): elevated; free carnitine: depleted; glutarylcarnitine: increased; GA(plasma): increased |
| Enzyme/Activity |
0.09 microM/h/g protein (leukocytes) |
| Owner name |
Isabelle Rinke |
| Database submission license |
No license selected |
| Created by |
Isabelle Rinke |
| Date created |
2019-01-22 17:35:00 +01:00 (CET) |
| Date last edited |
N/A |
|
