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Table 1 Demographic data, genetic or biochemical background and clinical phenotypes [23]

From: Non-invasive test using palmitate in patients with suspected fatty acid oxidation defects: disease-specific acylcarnitine patterns can help to establish the diagnosis

Patient Group Age [years] range Biochemical findings or variants found Number of Patients Clinical course
ACADM (NM_000016.5):
MCADD
(19 boys, 11 girls)
0–17 c.985[A > G];[A > G] (Class 5; Class 5)
c.985A > G(;)c.199 T > C (Class 5; Class 3)
c.985A > G(;)c.362C > T (Class 5; Class 5)
c.985A > G(;)c.717C > G (Class 5; Class 5)
c.985A > G(;)c.476G > A (Class 5, Class 3)
mutation diagnosis was not performed, diagnosis based on metabolites
19
3
1
1
1
5
All were detected by selective newborn screening, no metabolic decompensation or clinical abnormalities based on the MCADD defect occurred
ACADVL (NM_000018.3):VLCADD
(2 boys, 4 girls)
0–4 c.848[T > C];[T > C] (Class 4; Class 4) 2 no metabolic decompensation or clinical abnormalities based on the VLCADD defect occurred
c.848 T > C(;)c.1357C > T (Class 4; Class 5) 1 no metabolic decompensation or clinical abnormalities based on the VLCADD defect occurred
c.538G > A(;)c.1367G > A (Class 4; Class 4) 1 infection associated CK elevation occurred
c.779C > T(;)c.1700G > A (Class 4; Class 4) 1 infection associated CK elevation occurred
mutation diagnosis was not performed, diagnosis based on enzymatic analysis and metabolites 1 cardiomyopathy and recurrent infection associated rhabdomyolysis occurred in this patient
HADHA (NM_000182.4):
LCHADD
(5 boys, 1 girl)
1–6 c.180 + 3A > G(;)c.1528G > C (Class 4; Class 5) 1 no metabolic decompensation or clinical abnormalities based on the LCHADD defect occurred
c.1528[G > C];[G > C] (Class 5, Class 5) 1 recurrent infection associated CK elevation occurred
c.914 T > A(;)c. 1528G > C (Class 3; Class 5) 3 One boy had no metabolic decompensation or clinical abnormalities based on the LCHADD defect, the younger brother had elevated CK levels and suffers from psychomotoric retardation. Another boy had no metabolic decompensation or clinical abnormalities based on the LCHAD defect
mutation diagnosis was not performed, diagnosis based on enzymatic analysis and metabolites 1 diagnosis due to severe metabolic decompensation accompanied by organ failure at the age of 8 months while suffering from gastrointestinal infection
CTD
(1 boy, 1 girl)
3–5 mutation diagnosis was not performed, diagnosis based on enzymatic analysis and metabolites 2 no metabolic decompensation or clinical abnormalities based on the CT defect
ACADS (NM_ NM_000017.3):
SCADD (1 boy, 2 girls)
10–13 c.625[G > A];[G > A] (Class 1; Class 1) 2 one patient was clinically unremarkable except for obesity, one suffered from psychiatric problems
mutation diagnosis was not performed, diagnosis based on metabolites 1 clinically unremarkable