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Table 1 Main clinical findings

From: Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

  Number n available Percent
Prenatal findings
 Cardiomegaly 1 60 2
 Rhythm abnormalities 2 60 3
 Decreased child movements 1 60 2
 Oligohydramnios 4 60 7
 Intrauterine growth failure 6 60 10
Neonatal course
 Lactic acidosis 21 63 33
 Cardiomyopathy 15 63 24
 Rhythm abnormalities 4 54 7
 Respiratory failure necessitating artificial ventilation 6 54 11
 Severe liver dysfunction/failure 2 54 4
 Severe renal dysfuntion/failure 2 54 4
Most frequent clinical findings
 Cardiomyopathy at presentation/during course 44/56 66/66 67/85
 Muscular weakness at presentation/during course 21/37 48/49 44/75
 Exercise intolerance at presentation/during course 21/34 49/47 43/72
Neurological findings
 Severe intellectual disability (clinical impression) 1 51 2
 Mild intellectual disability (clinical impression) 14 48 29
 Severe developmental delay (clinical impression) 4 52 8
 Mild developmental delay (clinical impression) 23 51 45
 Optic atrophy, retinits pigmentosa 0 70 0
Neuroradiological findings
 MRI: basal ganglia alterations 4 24 17
 MRI: leukoencephalopathy 5 21 24
 MRI: global brain atrophy 2 20 10
 MRI: isolated cerebellar atrophy 1 20 5
 MRS: lactate peak (any location) 2 16 13
Activities of daily living
 Age adequate behaviour 27 39 69
 Attending/finished regular school 26 41 63
 Able to sit independently 34 42 81
 Able to walk independently 33 41 80
 Able to eat and drink independently 33 41 80
 Able to perform personal hygiene independently 30 41 73
 Able to communicate with words/sentences 34/31 43/42 79/74