Phenotype #0000343229

Individual ID	00454588
Associated disease	GA1
Inheritance	Unknown
Age/Onset	-
Diagnosis/Initial	-
Age/Examination	-
Diagnosis/Definite	-
Age/Diagnosis	00y21m
Phenotype/Onset	-
Phenotype details	Birth: uneventful pregnancy, Cesarean section due to pelvic presentation; Postnatal adaptation: unremarkable with normal APGAR scores (10/10), a birth weight of 3335 g (42nd percentile), length of 52 cm (58th percentile), and head circumference of 36.5 cm (93rd percentile); NBS at 47 h: slightly elevated concentration of C5DC and two of three ratios slightly elevated; on repeated analysis in DBS at the age of 8 days, a normal concentration of C5DC; Early life: first months of life: normal development; reatrdation of motor development 10m; 16m: muscular hypotonia, instable posture, and mild dystonia; Lumbar puncture revealed normal concentrations of neurotransmitters in the CSF; 1y: highly febrile illness for several days; 20m: norovirus infection; Genetic analysis (additional): genetic panel analysis compiling 98 genes associated with ataxia was not informative; After treatment: continuous developmental progress; posture still instable; now walks when assisted; fine motor skills are delayed by 7 months, gross motor skills are delayed by 14 months; cognitive functions unaffected; the clinical phenotype can be classified as “insidious onset”.
Protein	-
Biochem	3-hydroxyglutaric acid(urine),C5DC in DBS and plasma slightly elevated;glutarylcarnitine(blood)0.12µmol/l,glutarylcarnitine(plasma)0.35µmol/l,3-hydroxyglutaric acid (urine) 8.66 µmol/mol creatinine
Enzyme/Activity	-
Owner name	Sabrina Oeser
Database submission license
Created by	Sabrina Oeser
Date created	2024-09-20 10:53:59 +02:00 (CEST)
Date last edited	N/A