Phenotype #0000166829

Individual ID	00218395
Associated disease	GA1
Inheritance	Familial, autosomal recessive
Age/Onset	00y02m
Diagnosis/Initial	-
Age/Examination	22y04m (22 years, 4 months)
Diagnosis/Definite	14y
Age/Diagnosis	-
Phenotype/Onset	-
Phenotype details	Encephalopathic crisis (HP:0006846) at age 02m with increased intraccranial pressure (HP:0002516), subdural hematoma and following implantation of ventriculoperitoneal shunt; Outcome thereafter: left-sided hemiparesis (HP:0001269) and dystonia (HP:0001276), developmental delay (HP:0001263), borderline intelligence (HP:0006889) (but studies at university); MRI (long-term follow-up after enceph. crisis). Widening of Sylvian fissure, T2 hyperintensity in putamen, globus pallidus and supratentorial white mattter, (for more details on MRI see full text)
Protein	-
Biochem	GA(urine) & 3-OH-GA(urine): elevated; glutarylcarnitine: 1.14µM
Enzyme/Activity	-
Owner name	Isabelle Rinke
Database submission license	No license selected
Created by	Isabelle Rinke
Date created	2019-01-25 15:01:31 +01:00 (CET)
Date last edited	N/A