ABSTRACT
Disorders of mitochondrial fatty acid b-oxidation should be considered in any infant who presents with unexplained hypoglycemia and/or myopathy. Although disorders of trifunctional protein (TFP) complex including long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) and mitochondrial TFP deficiencies are extremely rare, the combined incidence of mitochondrial fatty acid disorders is quite frequent. With the expansion of newborn screening, what were once considered uncommon disorders are being identified with increasing frequency in asymptomatic infants. The following case scenario presents an infant who developed symptoms prior to the completion of newborn screening. This fairly routine course for a late-preterm infant reveals an extremely rare inborn error of metabolism, LCHAD deficiency. An overview of TFP complex, the differential diagnoses as the case unfolds, diagnostic test results, acute care management, and short-term patient follow-up is presented. With experience, health care providers often become accustomed to and expect to see common things regularly. This case presents a scenario which, as it unfolds, appears to be quite common. It turns out, however, to be very uncommon.
Subject(s)
3-Hydroxyacyl CoA Dehydrogenases/deficiency , Cardiomyopathies/nursing , Infant, Premature, Diseases/diagnosis , Infant, Premature, Diseases/nursing , Infant, Small for Gestational Age , Lipid Metabolism, Inborn Errors/nursing , Mitochondrial Myopathies/nursing , Nervous System Diseases/nursing , Rhabdomyolysis/nursing , Cardiomyopathies/diagnosis , Diagnosis, Differential , Female , Follow-Up Studies , Humans , Infant, Newborn , Lipid Metabolism, Inborn Errors/diagnosis , Mitochondrial Myopathies/diagnosis , Mitochondrial Trifunctional Protein/deficiency , Neonatal Nursing , Nervous System Diseases/diagnosis , Rhabdomyolysis/diagnosisABSTRACT
A clinical case of very long chain fatty acid acyl-CoA dehydrogenase (VLCAD) deficiency with cardiac manifestation, is presented. A 2-day old newborn, delivered after a normal pregnancy, birth, and immediate post-natal period, was transported from an outside hospital (OSH) with episodic wide complex tachycardia. In this case, the newborn screen returned suggesting VLCAD deficiency, positively redirecting treatment. An overview of VLCAD, one category of inborn error of metabolism (IEM), is presented. Additionally, the importance of newborn screening, the role of genetic testing, and nursing implications to improve outcomes, will also be discussed.
Subject(s)
Acyl-CoA Dehydrogenase, Long-Chain/deficiency , Infant, Premature , Lipid Metabolism, Inborn Errors/diagnosis , Lipid Metabolism, Inborn Errors/nursing , Mitochondrial Diseases/diagnosis , Mitochondrial Diseases/nursing , Muscular Diseases/diagnosis , Muscular Diseases/nursing , Neonatal Screening/methods , Shock, Cardiogenic/diagnosis , Acyl-CoA Dehydrogenase, Long-Chain/genetics , Bradycardia/diagnosis , Bradycardia/therapy , Congenital Bone Marrow Failure Syndromes , Disease Progression , Early Diagnosis , Echocardiography/methods , Electrocardiography/methods , Female , Follow-Up Studies , Humans , Infant, Newborn , Lipid Metabolism, Inborn Errors/genetics , Lipid Metabolism, Inborn Errors/therapy , Mitochondrial Diseases/genetics , Mitochondrial Diseases/therapy , Muscular Diseases/genetics , Muscular Diseases/therapy , Pregnancy , Risk Assessment , Severity of Illness Index , Shock, Cardiogenic/nursing , Shock, Cardiogenic/therapy , Time Factors , Treatment OutcomeABSTRACT
La detección precoz de las enfermedades metabólicas ha constituido un gran paso a lo largo de la historia médica científica, ya que realizando una buena técnica se pueden diagnosticar enfermedades mejorando su pronóstico. Algunas de ellas son: hipotiroidismo, hiperplasia suprarrenal congénita, hiperfenilalaninemia, hemoglobinopatías y fibrosis quística, entre otras. La muestra se puede recoger de dos modos: la llamada extracción única (al tercer día de vida) o la extracción doble (1ª muestra a las 48 horas de vida y la 2ª muestra a partir del cuarto día de vida). Se debe destacar la importancia de protocolizar una idónea técnica para obtener buenos resultados y no dar lugar a muestras erróneas o falsos positivos(AU)
The possibility for early detection of metabolic disorders has been a big step forward in medical history due to using a good technique by which diseases can be diagnosed, improving their outcome. The main disorders that these tests are designed to detect are hypothyroidism, congenital adrenal hyperplasia, hyperphenylalaninemia, hemoglobinopathies, and cystic fibrosis, among others. Samples can be collected by two methods: the single draw (taken on the third day of life) or the double draw (the first sample is taken at 48 hours of life and the second after the fourth day). It is important to institute a good technique in order to obtain good results and prevent erroneous samples or false positives(AU)
Subject(s)
Humans , Male , Female , Lipid Metabolism, Inborn Errors/nursing , Metabolism, Inborn Errors/nursing , Early Diagnosis , Metabolic Diseases/diagnosis , Metabolic Diseases/nursing , Congenital Hypothyroidism/nursing , Hypothyroidism/nursing , Adrenal Hyperplasia, Congenital/nursing , Phenylketonurias/nursing , Cystic Fibrosis/nursingABSTRACT
Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency is a rare autosomal recessive disorder with varied expression, from severe hypoglycemia and possible sudden infant death to neurosensory deficits secondary to the acute onset. The neurosensory deficits can include clinical features such as seizure disorders, mental retardation, neuropathy, and retinopathy. The basic defect is the lack of the LCHAD enzyme in the liver, which is necessary for fatty acid metabolism. The condition is usually precipitated by infection and dehydration. A case example of a preschooler with LCHAD deficiency is presented to show the complexity of this disorder and resultant developmental disabilities. Implications for nursing practice, education, and research are discussed in relation to the needs of families with complex, developmental disabilities.
