Phenotype #0000155685
| Individual ID |
00207902 |
| Associated disease |
GA1 |
| Inheritance |
Familial, autosomal recessive |
| Age/Onset |
- |
| Diagnosis/Initial |
- |
| Age/Examination |
- |
| Diagnosis/Definite |
- |
| Age/Diagnosis |
04y06m |
| Phenotype/Onset |
- |
| Phenotype details |
Disease course: Recurrent rhabdomyolysis (HP:0008942) at age age 02y06m, 03y06m and 04y06m; Hospitalization because of varying degress and combinations of fatigue (HP:0012378), pallor (HP:0000980), high fever (>39°C) and convulsion (HP:0002373), reduced muscle strength (4 of 5), mild respiratory distress (HP:0002098), vomiting (HP:0002013) and alterations of urine colour (HP:0012073); Biochemical findings associated with rhabdomyolysis present each time (e.g. CK, CK-MB, LDH, ALT all elevated); For more details see full text; Echocardiography (at 02y06m): normal; MRI(at 03y06m): Bilateral arachnoid cyst; Muscle biopsy(quadriceps) (at 03y06m): Decreased muscle fiber density; Outcome after 3.5y of follow-up starting at age 04y06m: Development and growth normal |
| Protein |
- |
| Biochem |
GA(urine):126.99µmol/mol creatinine; 3-OH-GA(urine):3.39µmol/mol creatinine; glutarylcarnitine:1.02mmol/mol creatinine |
| Enzyme/Activity |
- |
| Owner name |
Isabelle Rinke |
| Database submission license |
No license selected |
| Created by |
Isabelle Rinke |
| Date created |
2018-12-03 09:48:31 +01:00 (CET) |
| Date last edited |
N/A |
|
