Diagnosis of LCHAD/TFP deficiency in an at risk newborn using umbilical cord blood acylcarnitine analysis
Trifunctional protein deficiency/Long-chain hydroxyacyl-CoA dehydrogenase deficiency (LCHAD/TFP) deficiency is a disorder of fatty acid oxidation and ketogenesis. Severe neonatal lactic acidosis, cardiomyopathy, and hepatic dysfunction are caused by the accumulation of toxic long-chain acylcarnitine...
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| Format: | Article |
| Language: | English |
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Elsevier
2017-03-01
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| Series: | Molecular Genetics and Metabolism Reports |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2214426916300854 |
| _version_ | 1811213470231691264 |
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| author | Donna B. Raval Kristina P. Cusmano-Ozog Omar Ayyub Callie Jenevein Laura H. Kofman Brendan Lanpher Natalie Hauser Debra S. Regier |
| author_facet | Donna B. Raval Kristina P. Cusmano-Ozog Omar Ayyub Callie Jenevein Laura H. Kofman Brendan Lanpher Natalie Hauser Debra S. Regier |
| author_sort | Donna B. Raval |
| collection | DOAJ |
| description | Trifunctional protein deficiency/Long-chain hydroxyacyl-CoA dehydrogenase deficiency (LCHAD/TFP) deficiency is a disorder of fatty acid oxidation and ketogenesis. Severe neonatal lactic acidosis, cardiomyopathy, and hepatic dysfunction are caused by the accumulation of toxic long-chain acylcarnitines. The feasibility of umbilical cord blood use in screening for acylcarnitine analysis and free carnitine has been hypothesized but not reported in LCHAD/TFP neonates.
We present a 4 week old female who was at risk of inheriting LCHAD/TFP deficiency and was diagnosed at the time of delivery using umbilical cord blood. Umbilical cord blood was collected at delivery and sent for acylcarnitine analysis. Treatment was started immediately. Acylcarnitine analysis demonstrated findings that are consistent with a biochemical diagnosis of LCHAD/TFP deficiency.
Patients with LCHAD/TFP deficiency should have treatment initiated as early as possible to avoid acute decompensation and minimize the long-term complications of the disorder including cardiomyopathy. In pregnancies at risk of having a child with LCHAD/TFP deficiency, umbilical cord blood sample is an efficient method to diagnose an inborn error of metabolism such as LCHAD/TFP deficiency. |
| first_indexed | 2024-04-12T05:47:12Z |
| format | Article |
| id | doaj.art-2866952a1b8547e49eb616595ed6de50 |
| institution | Directory Open Access Journal |
| issn | 2214-4269 |
| language | English |
| last_indexed | 2024-04-12T05:47:12Z |
| publishDate | 2017-03-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Molecular Genetics and Metabolism Reports |
| spelling | doaj.art-2866952a1b8547e49eb616595ed6de502022-12-22T03:45:24ZengElsevierMolecular Genetics and Metabolism Reports2214-42692017-03-0110C81010.1016/j.ymgmr.2016.11.007Diagnosis of LCHAD/TFP deficiency in an at risk newborn using umbilical cord blood acylcarnitine analysisDonna B. Raval0Kristina P. Cusmano-Ozog1Omar Ayyub2Callie Jenevein3Laura H. Kofman4Brendan Lanpher5Natalie Hauser6Debra S. Regier7Maryland Perinatal Associates, Takoma Park, MD, USAGenetics and Metabolism, Children's National Health System, Washington, DC,USAGenetics and Metabolism, Children's National Health System, Washington, DC,USAInova Translational Medicine Institute, Division of Medical Genomics, Falls Church, VA, USADepartment of Medical Genetics, Kaiser Permanente Mid-Atlantic States, McLean, VA USADepartment of Medical Genetics, Mayo Clinic, Rochester, MN, USAInova Translational Medicine Institute, Division of Medical Genomics, Falls Church, VA, USAGenetics and Metabolism, Children's National Health System, Washington, DC,USATrifunctional protein deficiency/Long-chain hydroxyacyl-CoA dehydrogenase deficiency (LCHAD/TFP) deficiency is a disorder of fatty acid oxidation and ketogenesis. Severe neonatal lactic acidosis, cardiomyopathy, and hepatic dysfunction are caused by the accumulation of toxic long-chain acylcarnitines. The feasibility of umbilical cord blood use in screening for acylcarnitine analysis and free carnitine has been hypothesized but not reported in LCHAD/TFP neonates. We present a 4 week old female who was at risk of inheriting LCHAD/TFP deficiency and was diagnosed at the time of delivery using umbilical cord blood. Umbilical cord blood was collected at delivery and sent for acylcarnitine analysis. Treatment was started immediately. Acylcarnitine analysis demonstrated findings that are consistent with a biochemical diagnosis of LCHAD/TFP deficiency. Patients with LCHAD/TFP deficiency should have treatment initiated as early as possible to avoid acute decompensation and minimize the long-term complications of the disorder including cardiomyopathy. In pregnancies at risk of having a child with LCHAD/TFP deficiency, umbilical cord blood sample is an efficient method to diagnose an inborn error of metabolism such as LCHAD/TFP deficiency.http://www.sciencedirect.com/science/article/pii/S2214426916300854LCHADLong-chain hydroxyacyl-CoA dehydrogenase deficiencyUmbilical cord blood |
| spellingShingle | Donna B. Raval Kristina P. Cusmano-Ozog Omar Ayyub Callie Jenevein Laura H. Kofman Brendan Lanpher Natalie Hauser Debra S. Regier Diagnosis of LCHAD/TFP deficiency in an at risk newborn using umbilical cord blood acylcarnitine analysis Molecular Genetics and Metabolism Reports LCHAD Long-chain hydroxyacyl-CoA dehydrogenase deficiency Umbilical cord blood |
| title | Diagnosis of LCHAD/TFP deficiency in an at risk newborn using umbilical cord blood acylcarnitine analysis |
| title_full | Diagnosis of LCHAD/TFP deficiency in an at risk newborn using umbilical cord blood acylcarnitine analysis |
| title_fullStr | Diagnosis of LCHAD/TFP deficiency in an at risk newborn using umbilical cord blood acylcarnitine analysis |
| title_full_unstemmed | Diagnosis of LCHAD/TFP deficiency in an at risk newborn using umbilical cord blood acylcarnitine analysis |
| title_short | Diagnosis of LCHAD/TFP deficiency in an at risk newborn using umbilical cord blood acylcarnitine analysis |
| title_sort | diagnosis of lchad tfp deficiency in an at risk newborn using umbilical cord blood acylcarnitine analysis |
| topic | LCHAD Long-chain hydroxyacyl-CoA dehydrogenase deficiency Umbilical cord blood |
| url | http://www.sciencedirect.com/science/article/pii/S2214426916300854 |
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