Phenotype #0000166496

Individual ID 00218047
Associated disease GA1
Inheritance Familial, autosomal recessive
Age/Onset -
Diagnosis/Initial -
Age/Examination 01y01m (1 year, 1 month)
Diagnosis/Definite -
Age/Diagnosis 00y00m04d
Phenotype/Onset -
Phenotype details Never had an acute metabolic decompensation; Outcome: Nonambulatory, feeds by mouth and G-tube (HP:0011471), nonverbal communication (HP:0001344) (consider current age 01y01m); MRI: underdevelopment of anterior temporal lobes, hyperintensity of basal ganglia without volume loss
Protein -
Biochem GA(urine): strongly elevated; 3-OH-GA(urine): elevated; glutarylcarnitine(NBS): 1.55µM
Enzyme/Activity -
Owner name Isabelle Rinke
Database submission license No license selected
Created by Isabelle Rinke
Date created 2019-01-17 13:45:40 +01:00 (CET)
Date last edited N/A

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