Phenotype #0000000555
| Individual ID |
00001123 |
| Associated disease |
GA1 |
| Inheritance |
Familial, autosomal recessive |
| Age/Onset |
35y |
| Diagnosis/Initial |
Psychiatric disease and later: assumed leukodystrophy |
| Age/Examination |
- |
| Diagnosis/Definite |
- |
| Age/Diagnosis |
66y |
| Phenotype/Onset |
- |
| Phenotype details |
Since infancy: macrocephaly (HP:0000256), various infectious diseases without encephalopathic crisis; At age 35y: severe intermittent headaches (HP:0002315); At age 50y: moderate tremor of both arms (HP:0200085); Between ages 54y - 62y: six tonic-clonic seizures (HP:0002069); At age 63y: begin of slowly progressive dementia (HP:0000726) and speech problems, aggressive behaviour (HP:0000718), acoustic and visual hallucinations (HP:0008765, HP:0002367), ataxia (HP:0001251) progressing to severe gait disturbance (HP:0001288) with frequent falls and fractures, repeated febrile episodes of unclear origin due to impaired temperature control; At age 66y: severe speech problems because of intermittent orofacial dyskinesia (HP:0002310), diminished reactions, disorientation in time, reduced tendon reflexes (HP:0001315), severely reduced fine motor skills (HP:0007010) and coordination (HP:0002370); MRI: wide temporo-polar CSF spaces, open Sylvian fissures, asymmetric white matter abnormalities (e.g. confluent signal changes of supratentorial white matter in frontal areas), generalized cortical atrophy |
| Protein |
- |
| Biochem |
GA(urine):1,600mmol/mol creatinine; 3-OH-GA(urine): 109mmol/mol creatinine |
| Enzyme/Activity |
GCDH activity: <1% |
| 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 |
2018-12-18 08:52:22 +01:00 (CET) |
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