Phenotype #0000000579
| Individual ID |
00001147 |
| Associated disease |
GA1 |
| Inheritance |
Familial, autosomal recessive |
| Age/Onset |
01y |
| Diagnosis/Initial |
- |
| Age/Examination |
03y06m (3 years, 6 months) |
| Diagnosis/Definite |
- |
| Age/Diagnosis |
- |
| Phenotype/Onset |
Recurrent irritability (HP:0000737) and vomiting (HP:0002013), head circumference >90th percentile |
| Phenotype details |
Disease course: continuation of episodes of drowsiness, vomiting and convulsions (HP:0001250); positive intradermal skin test for tuberculosis with subsequent six months treatment; At age 02y: temporary insertion of subdural peritoneal shunts with following development of spasticity signs; At age 03y03m: spasticity (HP:0001257), truncal ataxia (HP:0001251), involuntary choreiform movements, developmental regression (HP:0002376) and delay: motor regression (no longer able to sit or stand with support), non-motor skills delayed by 0.5 years, dysarthria (HP:0001260); At age 03y06m: hypoglycemia (HP:0001943) during mild upper respirartory tract infection with following diagnosis of temporary adrenocortical insufficiency (for 2.5 years) (HP:0000846) and GA-1; At age 05y: improvement of neurologic condition (began to walk with support, improvement in speech), no intellectual deterioration, persistence of hypoglycemic episodes during fasting; At age 06y: neurologic condition static, no further hypoglycemic episodes; At age 07y06m: severely affected with choreoathetosis (HP:0001266), hyperkinesia (HP:0002487) and dysarthria, no intellectual deterioration; At age 28y: no further progression of previous state;
CT(age 01y03m): bilateral subdural hydromas containing sterile xanthochromic fluid (no history of injury); CT(age 03y06m): increase of ventricular system in size, residual effusions over both temporal lobes, no signs of raised intracranial pressure |
| Protein |
- |
| Biochem |
glutarylcarnitine(urine): 42.8 mmol/mol creatinine; 3-OH-GA(urine): 172 mmol/mol creatinine; GA(urine): 2280 mmol/mol creatinine |
| Enzyme/Activity |
GCDH activity (fibroblasts): 1.3% 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 |
2019-05-01 19:18:48 +02:00 (CEST) |
|
Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
|
