Phenotype #0000000544

Individual ID	00001112
Associated disease	GA1
Inheritance	Familial, autosomal recessive
Age/Onset	-
Diagnosis/Initial	-
Age/Examination	08y06m (8 years, 6 months)
Diagnosis/Definite	-
Age/Diagnosis	-
Phenotype/Onset	-
Phenotype details	Medical history: Normal development except for transient motor delay, no encephalopathic crisis despite of several immunizations and febrile infectious diseases, disliked protein-rich dairy products; At age 08y06m: Episode of non-febrile severe nausea, recurrent vomiting (HP:0002017), cephalgia (HP:0002315) and mild ataxia (HP:0001251) without evidence for infectious disease; Outcome after therapy: Normalization of neurologic symptoms (especially no dystonia or chorea), average IQ (96, HAWIK-III); MRI: Extensive white matter abnormalities, T2 hyperintensity of thalamus, tectal plate and periaqueductal zone; MRI (after initiation of treatment): subependymal nodules
Protein	-
Biochem	GA(urine):2100 mmol/mol creatinine; 3-OH-GA:110 mmol/mol creatinine; free carnitine(plasma): 3 µmol/l
Enzyme/Activity	Residual activity: 1%
Owner name	Katrin Hinderhofer
Database submission license
Created by	Julia Lopez
Date created	2013-04-17 17:21:21 +02:00 (CEST)
Date last edited	2019-05-15 12:22:54 +02:00 (CEST)

Global Variome shared LOVD