Phenotype #0000144019

Individual ID	00183242
Associated disease	GA1
Inheritance	Familial, autosomal recessive
Age/Onset	-
Diagnosis/Initial	-
Age/Examination	00y04m (4 months)
Diagnosis/Definite	-
Age/Diagnosis	-
Phenotype/Onset	-
Phenotype details	Severely affected, Symptoms: Developm. delay (HP:0001263), seizures (HP:0001250), post acute infantile encephalopathy (HP:0006846); Neuroimaging: Brain atrophy, widely open pretemporal and Silvian fissure CSF spaces, extracerebral fluid collections, subependymal cysts, basal ganglia lesions, delayed myelination, white matter signal abnormalities
Protein	-
Biochem	GA(urine) & 3-OH-GA(urine):markedly increased on qualitative urine organic acid analysis but not quantified; plasma free carnitine:5,9µM; total carnitine:11,4µM; glutarylcarnitine(blood):0,14µM
Enzyme/Activity	-
Owner name	Isabelle Rinke
Database submission license	No license selected
Created by	Isabelle Rinke
Date created	2018-10-22 14:37:03 +02:00 (CEST)
Date last edited	2018-11-22 10:36:40 +01:00 (CET)