Medium-chain acyl coenzyme A dehydrogenase deficiency: occurrence in an infant and his father.
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.


METHODS
Clinical observations and definitive biochemical testing.


METHODS
Children's hospital and university laboratory.


METHODS
One child and one adult.


METHODS
Diagnosis and treatment.


METHODS
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.


CONCLUSIONS
In MCAD deficiency, as opposed to the usual rare autosomal recessive metabolic disease, a parent may also be an affected homozygote.
Bodman
M
M
Department of Pediatric/Biochemical Genetics, University of California, San Diego, 9500 Gilman Dr, La Jolla, CA 92093-0830, USA.
Smith
D
D
Nyhan
W L
WL
Naviaux
R K
RK
D042964:Acyl-CoA Dehydrogenase; D000328:Adult; D001483:Base Sequence / Q000235:genetics; D044943:Fatty Acid Desaturases / Q000172:deficiency*; D006720:Homozygote; D006801:Humans; D007223:Infant; D008297:Male; D008661:Metabolism, Inborn Errors / Q000235:genetics; D009154:Mutation / Q000235:genetics
D044943:Fatty Acid Desaturases; D042964:Acyl-CoA Dehydrogenase