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Original ArticleOpen Access
Mitochondrial Fatty Acid Oxidation Disorders In Thai Infants A Report of 3 Cases
Wasant P 
,
Naylor E ,
Matsumoto l ,
Liammongkolkul S
,
Naylor E ,
Matsumoto l ,
Liammongkolkul S EDWIN NAYLOR, Ph.D.**,
SOMPORN LIAMMONGKOLKUL, M.Sc.*
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 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.
Key word : Mitochondrial Fatty Acid Oxidation Disorders, Sudden Cardiac Arrest, Cardiomyopathy
SOMPORN LIAMMONGKOLKUL, M.Sc.*
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 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.
Key word : Mitochondrial Fatty Acid Oxidation Disorders, Sudden Cardiac Arrest, Cardiomyopathy
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