A patient with short-chain acyl-CoA dehydrogenase (SCAD) deficiency may present with a number of clinical and laboratory findings, usually during early childhood.
SCAD is a mitochondrial enzyme involved in the generation of acetyl-CoA from short-chain fatty acids (4, 5 and 6 carbons) via beta-oxidation. Acetyl-CoA (1) serves a substrate for gluconeogenesis and (2) generates ATP via the Krebs cycle.
Toxic metabolites seen with SCAD deficieincy may include:
(1) butyryl-carnitine
(2) methylsuccinyl CoA
(3) ethylmalonic acid
(4) ketone bodies
Common findings:
(1) metabolic acidosis with acid urine (organic aciduria)
(2) hypotonia (myopathy)
(3) developmental delay
Variable findings:
(1) dysmorphic craniofacial features
(2) hypoglycemia, especially when fasting
(3) seizures
(4) scoliosis
(5) cyclic vomiting
(6) myocardial dysfunction
(7) hyperreflexia and hypertonia
(8) tremors
Toxemia of pregnancy may have been seen during the patient's gestation due to the toxic intermediates of fatty acid metabolism.
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