title: Diagnosis of LCHAD/TFP deficiency in an at risk newborn using umbilical cord blood acylcarnitine analysis.
abstract: 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.
authors.affiliation: Maryland Perinatal Associates, Takoma Park, MD, USA.
authors.forename: Donna B
authors.initials: DB
authors.lastname: Raval
authors.affiliation: Genetics and Metabolism, Children's National Health System, Washington, DC,USA.
authors.forename: Kristina P
authors.initials: KP
authors.lastname: Cusmano-Ozog
authors.affiliation: Genetics and Metabolism, Children's National Health System, Washington, DC,USA.
authors.forename: Omar
authors.initials: O
authors.lastname: Ayyub
authors.affiliation: Inova Translational Medicine Institute, Division of Medical Genomics, Falls Church, VA, USA.
authors.forename: Callie
authors.initials: C
authors.lastname: Jenevein
authors.affiliation: Department of Medical Genetics, Kaiser Permanente Mid-Atlantic States, McLean, VA USA.
authors.forename: Laura H
authors.initials: LH
authors.lastname: Kofman
authors.affiliation: Department of Medical Genetics, Mayo Clinic, Rochester, MN, USA.
authors.forename: Brendan
authors.initials: B
authors.lastname: Lanpher
authors.affiliation: Inova Translational Medicine Institute, Division of Medical Genomics, Falls Church, VA, USA.
authors.forename: Natalie
authors.initials: N
authors.lastname: Hauser
authors.affiliation: Genetics and Metabolism, Children's National Health System, Washington, DC,USA.
authors.forename: Debra S
authors.initials: DS
authors.lastname: Regier
keywords: LCHAD; Long-chain hydroxyacyl-CoA dehydrogenase deficiency; Umbilical cord blood