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Medium-Chain Acyl Coenzyme A Dehydrogenase Deficiency
Occurrence in an Infant and His Father
Marc Bodman, BS;
David Smith;
William L. Nyhan, MD, PhD;
Robert K. Naviaux, MD, PhD
Arch Neurol. 2001;58:811-814.
Background Autosomal recessive inborn errors of metabolism often present as life-threatening
disease in infancy and have adverse effects on the nervous system. Parents
are usually heterozygotes. This is true of most disorders of fatty acid oxidation,
which are rare and present with hypoketotic hypoglycemia. However, the gene
for medium-chain acyl coenzyme A dehydrogenase (MCAD) deficiency is common
in white people, raising the possibility that a parent may be homozygous.
Objective To document the occurrence of MCAD deficiency in a 12-month-old boy
and his father, both of whom were homozygous for the A985G mutation.
Design Clinical observations and definitive biochemical testing.
Setting Children's hospital and university laboratory.
Participants One child and one adult.
Interventions Diagnosis and treatment.
Main Outcome Measures Clinical outcome; analysis results of plasma and urine for carnitine
and organic acids.
Results An infant admitted with an acute illness requiring intensive care was
found to have carnitine deficiency and dicarboxylic aciduria; MCAD deficiency
was diagnosed by assay of his DNA for the common mutation. Test results of
the father revealed him also to be homozygous.
Conclusion In MCAD deficiency, as opposed to the usual rare autosomal recessive
metabolic disease, a parent may also be an affected homozygote.
From the Department of Pediatric/Biochemical Genetics, University of
California, San Diego.
Reprints: William L. Nyhan, MD, PhD, Department of Pediatric/Biochemical
Genetics, University of California, San Diego, 9500 Gilman Dr, La Jolla, CA
92093-0830 (e-mail: wnyhan{at}ucsd.edu).
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