Phenotype #0000155441

Individual ID	00207652
Associated disease	GA1
Inheritance	Familial, autosomal recessive
Age/Onset	-
Diagnosis/Initial	-
Age/Examination	-
Diagnosis/Definite	-
Age/Diagnosis	24y
Phenotype/Onset	-
Phenotype details	Symptoms: Intermittent fatigue (HP:0012378)
Protein	-
Biochem	GA(urine) & 3-OH-GA(urine): elevated; Free carnitine(plasma):7.5µmol/L; Total carnitine(plasma):10.4µmol/L; glutarylcarnitine(plasma): elevated
Enzyme/Activity	Decreased (lymphocytes)
Owner name	Isabelle Rinke
Database submission license	No license selected
Created by	Isabelle Rinke
Date created	2018-11-27 09:00:26 +01:00 (CET)
Date last edited	N/A

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