A case report of short-chain acyl-CoA dehydrogenase deficiency (SCADD)

@inproceedings{Lampret2015ACR,
  title={A case report of short-chain acyl-CoA dehydrogenase deficiency (SCADD)},
  author={Barbka Repi{\vc} Lampret and Simona Murko and Maru{\vs}a Debeljak and Mojca Zerjav Tansek and Petja Fister and Tadej Battelino},
  booktitle={Biochemia medica},
  year={2015}
}
BACKGROUND Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is a rare inherited mitochondrial fatty acid oxidation disorder associated with variations in the ACADS (Acyl-CoA dehydrogenase, C-2 to C-3 short chain) gene. SCADD has highly variable biochemical, genetic and clinical characteristics. Phenotypes vary from fatal metabolic decompensation to asymptomatic individuals. SUBJECT AND METHODS A Romani boy presented at 3 days after birth with hypoglycaemia, hypotonia and respiratory… CONTINUE READING

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