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Washington University Experience | METABOLIC | Multiple Acyl CoA Dehydrogenase Deficiency | 1A0 Case 1 - History
Case 1 History ---- The patient was a nine day old girl, born at ~37 weeks gestation. Her birth weight was 2948 grams. On her first night of life she had a glucose of 18 despite breastfeeding and formula, and, eventually, required continuous D20 infusion. She showed diffuse hypotonia with clonus. On day of life 2 she developed metabolic acidosis requiring bicarbonate. As the hospital course progressed it was noted that the infant's ammonia levels and lactic acid levels were rising, thought consistent with an inborn error of metabolism. The patient was transferred to St. Louis Children's Hospital for further care and diagnostic work up. A screening urine organic acid panel confirmed a diagnosis of multiple acyl-CoA deficiency. Total parenteral nutrition and fluid management was difficult due to her inability to properly metabolize fatty acids and amino acids. Despite maximal medical management, the patient became increasingly acidotic with both a metabolic and respiratory acidosis. Due to her poor prognosis and worsening metabolic acidosis, the decision was made to provide supportive measures only and the patient died. At autopsy, hepatomegaly with marked steatosis was seen which are commonly encountered in inborn errors of metabolism; however, its presence is not specific for multiple acyl CoA dehydrogenase deficiency per se.
