New genetic defects in mitochondrial fatty acid oxidation and carnitine deficiency
CA Stanley - Advances in pediatrics, 1987 - Elsevier
Summary and Conclusions There are now nine inherited diseases that have been identified
in the pathway of mitochondrial fatty acid oxidation, including LCAD, MCAD, SCAD, and
HMG-CoA lyase deficiencies, two forms each of CPT and MAD deficiencies and an
incompletely characterized disorder of primary carnitine deficiency. The varied range of
clinical manifestations in this new group of diseases should attract the attention not only of
general pediatricians (coma, hypoglycemia) but also of pediatric subspecialists in neurology …
in the pathway of mitochondrial fatty acid oxidation, including LCAD, MCAD, SCAD, and
HMG-CoA lyase deficiencies, two forms each of CPT and MAD deficiencies and an
incompletely characterized disorder of primary carnitine deficiency. The varied range of
clinical manifestations in this new group of diseases should attract the attention not only of
general pediatricians (coma, hypoglycemia) but also of pediatric subspecialists in neurology …