Luca's parents knew he was at high risk of developing the rare MCAD (Medium-chain acyl CoA dehydrogenase), which affects the metabolism, because of a family history which saw one member killed by the illness.
Predictive value, clinical status and genotype of medium-chain acyl CoA dehydrogenase deficiency (MCADD) ascertained by screening at one week of age using electrospray tandem mass spectrometry of underivatized blood spots: findings from a UK multicentre trial.
Well-known mitochondrial diseases of children are Leigh's syndrome, cardiomyopathty, and medium-chain acyl CoA dehydrogenase (MCAD) deficiency Typical mitochondrial diseases of young adults include Leber's hereditary optic neuropathy and Kearns-Sayre syndrome.
Many disorders and syndromes were eliminated as the focus turned to something called short-chain acyl CoA dehydrogenase deficiency, a fatty acid oxidation disorder within the larger category of mitochondrial disorders.
Luca Picone-Chiodo, who was at high risk of having MCAD (Medium-chain acyl CoA dehydrogenase) a genetic condition that affects the metabolism, died at his family home in Huddersfield on October 16, 2009.
Mitochondrial oxidation of several amino acids and fatty acids involves acyl CoA intermediates, which are oxidized by flavin-containing acyl CoA dehydrogenases. Nine flavoprotein dehydrogenases, including DMGDH, transfer their electrons via ETF and ETF-QO into the respiratory chain.