Three infants with documented mitochondrial
fatty acid oxidation disorders are described in this report. Case 1.
Carnitine/acylcarnitine translocase deficiency. (CACT) (OMIM 212138) A two-day-old male developed
sudden cardiac arrest 48 hours postpartum, with a previous history of early death (day 2) in siblings with a history of parental consanguinity;
somnolence, inactivity, refusal to suck within 24 h,
hepatomegaly, persistent
hypoglycemia,
hypocalcemia,
hyperkalemia and severe
metabolic acidosis prior to
cardiac arrest. Dried blood spots by tandem mass spectrometry demonstrated 10 x elevation of
palmitoylcarnitine, moderate elevation of oleylcarnitine, steroylcarnitine and
myristoylcarnitine. Case 2.
Medium chain acyl CoA dehydrogenase (
MCAD) deficiency. (OMIM 212139) A six-week-old male infant, developed
sudden cardiac arrest after contacting a viral illness, resuscitated successfully in the first episode, only to succumb during the second episode, 2 weeks apart. Plasma
acylcarnitine via tandem mass spectrometry was reported normal; however, urine organic
acids via gas liquid chromatography and mass spectrometry demonstrated characteristic metabolites consistent with MCADD. Case 3.
Carnitine deficiency, systemic primary. (
CDSP) (OMIM 212140) A one-year-old girl with progressive
dyspnea since birth and a history of parental consanguinity. Severe
dilated cardiomyopathy with episodes of cardiac decompensations,
hepatomegaly,
anemia, generalized
hypotonia, but no
hypoglycemia were demonstrated prior to
cardiac arrest. Extremely low
carnitine level noted in dried blood spots via tandem mass spectrometry.