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