short chain- acyl-CoA-dehydrogenase deficiency(English)

• now viewed as a biochemical phenotype rather than a disease. A broad range of clinical findings was originally reported in those with confirmed SCADD, including severe dysmorphic facial features, feeding difficulties / failure to thrive, metabolic acidosis, ketotic hypoglycemia, lethargy, developmental delay, seizures, hypotonia, dystonia, and myopathy. However, individuals with no symptoms were also reported
• MCADD, SCAD, VLCADD, AC, CTD, EMA, FAOD, LCHAD
• Enzymes, Biochemistry, Congenital disorders
• https://doi.org…3023-017-0737-7
• https://doi.org…dev.2009.06.001
• https://www.ncb…books/NBK63582/