Mitochondrial Fatty Acid Oxidation Disorders In Thai
Infants : A Report of 3 Casest
PORNSWAN WASANT, M.D.*, EDWIN NAYLOR, Ph.D.**,
ISAMU MATSUMOTO, Ph.D.***, SOMPORN LIAMMONGKOLKUL, M.Sc.*
Affiliation : * Genetics Unit, Department of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok 10700,
Thailand.
** NeoGen Screen, Inc., Pittsburgh, Pennsylvania, USA.
*** Matsumoto Institute of Life Sciences, Kanazawa Medical University, Kanazawa, Japan.
t Presented at the 1. 39'h Siriraj Scientific Congress, March 8-12, 1999, Sayamintr Building, Faculty of Medicine
Siriraj Hospital, Mahidol University.
2. 3'd HUGO Pacific Meeting and the 4'h Asia-Pacific Conference on Human Genetics, October
18-21, 2000, Shanghai, China.
AbstractThree 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 palmitoylcamitine, moderate elevation of oleylcamitine, steroyl
camitine and myristoylcamitine. Case 2. Medium chain acyl CoA dehydrogenase (MCAD) defi
ciency. (OMIM 212139) A six-week-old male infant, developed sudden cardiac arrest after contact
ing a viral illness, resuscitated successfully in the first episode, only to succumb during the second
episode, 2 weeks apart. Plasma acylcamitine 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 camitine level noted in dried blood spots via tandem mass spectro
metry.
Keywords : Mitochondrial Fatty Acid Oxidation Disorders, Sudden Cardiac Arrest, Cardiomyopathy
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