A Rare Case of Short-Chain Acyl-COA Dehydrogenase Deficiency: The Apparent Rarity of the Disorder Results in Under Diagnosis |
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| Authors: | G Shilpa Reddy M Sujatha |
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| Institution: | (1) Department of Biochemistry, Institute of Genetics and Hospital for Genetic Diseases, Osmania University, Begumpet, Hyderabad, Andhra Pradesh, 500016, India;(2) Department of Clinical Genetics, Institute of Genetics and Hospital for Genetic Diseases, Osmania University, Begumpet, Hyderabad, Andhra Pradesh, 500016, India |
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| Abstract: | Short-chain acyl-CoA dehydrogenase (ACAD) deficiency is an extremely rare inherited mitochondrial disorder of fat metabolism.
This belongs to a group of diseases known as fatty acid oxidation disorders. Screening programmes have provided evidence that
all the fatty acid oxidation disorders combined are among the most common inborn errors of metabolism. Mitochondrial beta
oxidation of fatty acids is an essential energy producing pathway. It is a particularly important pathway during prolonged
periods of starvation and during periods of reduced caloric intake due to gastrointestinal illness or increased energy expenditure
during febrile illness. The most common presentation is an acute episode of life threatening coma and hypoglycemia induced
by a period of fasting due to defective hepatic ketogenesis. Here, the case of a 4 month old female patient who had seizures
since the third day of her birth and persistent hypoglycemia is described. She was born to parents of second degree consanguinity
after 10 years of infertility treatment. There was history of delayed cry after birth. Metabolic screening for TSH, galactosemia,
17-OHP, G6PD, cystic fibrosis, biotinidase were normal. Tandem mass spectrometric (TMS) screening for blood amino acids, organic
acids, fatty acids showed elevated butyryl carnitine (C4) as 3.40 μmol/L (normal <2.00 μmol/L), hexanoyl carnitine (C6) as
0.92 μmol/L (normal <0.72 μmol/L), C4/C3 as 2.93 μmol/L (normal <1.18 μmol/L). The child was started immediately on carnitor
syrup (carnitine) 1/2 ml twice daily. Limitation of fasting stress and dietary fat was advised. Baby responded well by gaining
weight and seizures were controlled. Until now, less than 25 patients have been reported worldwide. The limited number of
patients diagnosed until now is due to the rarity of the disorder resulting in under diagnosis. |
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| Keywords: | Short chain acyl-CoA dehydrogenase (SCAD) Tandem mass spectrometry (TMS) Gas
chromatography Liquid chromatography Ethylmalonic acid Butryl-carnitine |
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