Multiple Acyl-Coenzyme A Dehydrogenase Deficiency Leading to Severe Metabolic Acidosis in a Young Adult
Background: Multiple acyl-coenzyme A dehydrogenase deficiency (MADD) is a rare metabolic disorder affecting fatty acid oxidation. Incidence at birth is estimated at 1:250 000, but type III presents in adults. It is characterized by nonspecific symptoms but if undiagnosed may cause ketoacidosis and r...
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| Format: | Article |
| Language: | English |
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Elsevier
2023-01-01
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| Series: | AACE Clinical Case Reports |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S2376060522000827 |
| _version_ | 1797960196027318272 |
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| author | Karthik Subbu, MD Clara Hildebrandt, MD Donald Caraccio, MD |
| author_facet | Karthik Subbu, MD Clara Hildebrandt, MD Donald Caraccio, MD |
| author_sort | Karthik Subbu, MD |
| collection | DOAJ |
| description | Background: Multiple acyl-coenzyme A dehydrogenase deficiency (MADD) is a rare metabolic disorder affecting fatty acid oxidation. Incidence at birth is estimated at 1:250 000, but type III presents in adults. It is characterized by nonspecific symptoms but if undiagnosed may cause ketoacidosis and rhabdomyolysis. A review of 350 patients found less than one third presented with metabolic crises. Our objective is to describe an adult with weakness after carbohydrate restriction that developed a pulmonary embolism and ketoacidosis, and was diagnosed with MADD type III. Case Report: A 27-year-old woman with obesity presented to the hospital with fatigue and weakness worsening over months causing falls and decreased intake. She presented earlier to clinic with milder symptoms starting months after initiating a low carbohydrate diet. Testing revealed mild hypothyroidism and she started Levothyroxine for presumed hypothyroid myopathy but progressed. Muscle biopsy suggested a lipid storage myopathy. Genetic testing revealed a mutation in the ETFDH (electron transfer flavoprotein dehydrogenase) gene likely pathogenic for MADD; however, before this was available she developed severe ketoacidosis and rhabdomyolysis. She empirically started a low-fat diet, carnitine, cyanocobalamin, and coenzyme Q10 supplementation with improvement. Over months her energy and strength normalized. Discussion: MADD may cause ketoacidosis and rhabdomyolysis but this is rare in adults. Diagnosis requires clinical suspicion followed by biochemical and genetic testing. It should be considered when patients present with weakness or fasting intolerance. Treatment includes high carbohydrate, low-fat diets, supplementation, and avoiding fasting. Conclusion: There should be greater awareness to consider MADD in adults presenting with neuromuscular symptoms, if untreated it may cause severe metabolic derangements. |
| first_indexed | 2024-04-11T00:42:30Z |
| format | Article |
| id | doaj.art-5dd2732c7cdb4061b188582ba1580d52 |
| institution | Directory Open Access Journal |
| issn | 2376-0605 |
| language | English |
| last_indexed | 2024-04-11T00:42:30Z |
| publishDate | 2023-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | AACE Clinical Case Reports |
| spelling | doaj.art-5dd2732c7cdb4061b188582ba1580d522023-01-06T04:17:21ZengElsevierAACE Clinical Case Reports2376-06052023-01-01911316Multiple Acyl-Coenzyme A Dehydrogenase Deficiency Leading to Severe Metabolic Acidosis in a Young AdultKarthik Subbu, MD0Clara Hildebrandt, MD1Donald Caraccio, MD2Division of Endocrinology, Diabetes, and Metabolism, Department of Internal Medicine, University of North Carolina School of Medicine, Chapel Hill, North CarolinaDivision of Genetics and Metabolism, Department of Pediatrics, University of North Carolina School of Medicine, Chapel Hill, North CarolinaDivision of Endocrinology, Diabetes, and Metabolism, Department of Internal Medicine, University of North Carolina School of Medicine, Chapel Hill, North Carolina; Address correspondence to Dr Donald Caraccio, University of North Carolina School of Medicine, Burnett-Womack Building, Room #7172, Chapel Hill, NC 27599-7172.Background: Multiple acyl-coenzyme A dehydrogenase deficiency (MADD) is a rare metabolic disorder affecting fatty acid oxidation. Incidence at birth is estimated at 1:250 000, but type III presents in adults. It is characterized by nonspecific symptoms but if undiagnosed may cause ketoacidosis and rhabdomyolysis. A review of 350 patients found less than one third presented with metabolic crises. Our objective is to describe an adult with weakness after carbohydrate restriction that developed a pulmonary embolism and ketoacidosis, and was diagnosed with MADD type III. Case Report: A 27-year-old woman with obesity presented to the hospital with fatigue and weakness worsening over months causing falls and decreased intake. She presented earlier to clinic with milder symptoms starting months after initiating a low carbohydrate diet. Testing revealed mild hypothyroidism and she started Levothyroxine for presumed hypothyroid myopathy but progressed. Muscle biopsy suggested a lipid storage myopathy. Genetic testing revealed a mutation in the ETFDH (electron transfer flavoprotein dehydrogenase) gene likely pathogenic for MADD; however, before this was available she developed severe ketoacidosis and rhabdomyolysis. She empirically started a low-fat diet, carnitine, cyanocobalamin, and coenzyme Q10 supplementation with improvement. Over months her energy and strength normalized. Discussion: MADD may cause ketoacidosis and rhabdomyolysis but this is rare in adults. Diagnosis requires clinical suspicion followed by biochemical and genetic testing. It should be considered when patients present with weakness or fasting intolerance. Treatment includes high carbohydrate, low-fat diets, supplementation, and avoiding fasting. Conclusion: There should be greater awareness to consider MADD in adults presenting with neuromuscular symptoms, if untreated it may cause severe metabolic derangements.http://www.sciencedirect.com/science/article/pii/S2376060522000827multiple acyl-coenzyme A dehydrogenase deficiencyglutaric aciduria type IIlipid storage myopathyinborn errors of metabolismmuscle weaknesselectron transfer flavoprotein dehydrogenase |
| spellingShingle | Karthik Subbu, MD Clara Hildebrandt, MD Donald Caraccio, MD Multiple Acyl-Coenzyme A Dehydrogenase Deficiency Leading to Severe Metabolic Acidosis in a Young Adult AACE Clinical Case Reports multiple acyl-coenzyme A dehydrogenase deficiency glutaric aciduria type II lipid storage myopathy inborn errors of metabolism muscle weakness electron transfer flavoprotein dehydrogenase |
| title | Multiple Acyl-Coenzyme A Dehydrogenase Deficiency Leading to Severe Metabolic Acidosis in a Young Adult |
| title_full | Multiple Acyl-Coenzyme A Dehydrogenase Deficiency Leading to Severe Metabolic Acidosis in a Young Adult |
| title_fullStr | Multiple Acyl-Coenzyme A Dehydrogenase Deficiency Leading to Severe Metabolic Acidosis in a Young Adult |
| title_full_unstemmed | Multiple Acyl-Coenzyme A Dehydrogenase Deficiency Leading to Severe Metabolic Acidosis in a Young Adult |
| title_short | Multiple Acyl-Coenzyme A Dehydrogenase Deficiency Leading to Severe Metabolic Acidosis in a Young Adult |
| title_sort | multiple acyl coenzyme a dehydrogenase deficiency leading to severe metabolic acidosis in a young adult |
| topic | multiple acyl-coenzyme A dehydrogenase deficiency glutaric aciduria type II lipid storage myopathy inborn errors of metabolism muscle weakness electron transfer flavoprotein dehydrogenase |
| url | http://www.sciencedirect.com/science/article/pii/S2376060522000827 |
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