Outcome in six patients with mitochondrial trifunctional protein disorders identified by newborn screening |
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| Authors: | Astrid Sperk Martina Mueller Ute Spiekerkoetter |
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| Affiliation: | 1. Pediatrics, University of Washington, Seattle, WA, USA;2. Environmental and Occupational Health, University of Washington, Seattle, WA, USA;3. Pediatrics, Children''s Hospital of Orange County, Orange, CA, USA;4. Genomics Section, Hawai''i Department of Health, Honolulu, HI, USA;5. Pediatrics, University of California San Diego, La Jolla, CA, USA;6. Genetic Disease Screening Program, California Department of Public Health, Richmond, CA, USA;7. Molecular & Medical Genetics, Oregon Health & Science University, Portland, OR, USA;8. Northwest Regional Newborn Screening Program, Oregon State Public Health Laboratory, Hillsboro, OR, USA;9. Office of Newborn Screening, Washington State Department of Health, Shoreline, WA, USA |
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| Abstract: | Before the newborn screening era, disorders of the mitochondrial trifunctional protein (TFP) complex including long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) presented with high morbidity and mortality. Data on outcome and prognosis of TFP deficiency disorders since implementation of screening are scarce.We here characterize 6 screened patients with a disorder of the TFP complex (3 of those with LCHADD) with respect to clinical presentation and molecular features.Three of 6 patients were symptomatic prior availability of screening results on days 4–5 of life. Of the three asymptomatic patients recognised by screening, one acutely died at 3 months at home during an infection. Two patients remained asymptomatic with preventive measures during follow-up until the age of 3 years. One of them had an older sibling with identical genotype born before the screening era, who became symptomatic with 15 months.We conclude that newborn screening for disorders of the TFP complex allows identification of asymptomatic cases; however, the acute presentation in 3/6 babies before screening is noteworthy and troublesome. TFP and LCHAD deficiencies remain life-threatening disorders. This is in clear contrast to other defects of long-chain fatty acid oxidation after identification by newborn screening. |
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