Newborn screening for medium chain acyl CoA dehydrogenase deficiency

Leonard, J. V.; Dezateux, C.
March 2009
Archives of Disease in Childhood -- Fetal & Neonatal Edition;Mar2009, Vol. 94 Issue 3, p235
Academic Journal
Medium chain acyl CoA dehydrogenase deficiency (MCADD) is an uncommon inborn error of fatty acid oxidation that is a preventable cause of morbidity and mortality. Newborn screening for MCADD has been introduced in many centres worldwide and in this review we outline what the clinician needs to know. In most screening programmes a positive screening test has a high predictive value, but the diagnosis should always be confirmed independently. The basic treatment is dietary: avoid fasting and ensure a high carbohydrate intake during any illness. Careful attention to detail is essential as the long term outcome is only as good as the frontline clinical management.


Related Articles

  • Testing Every Baby for SCID. Lake, David L. // Texas Public Health Journal;Spring2013, Vol. 65 Issue 2, p4 

    The article presents the author's insights concerning the importance of screening every baby for severe combined immunodeficiency (SCID). The author tells the story of a mother who sent him an email telling that her son had died in her arms from SCID. He notes that babies with SCID could be...

  • Newborn screening: new developments, new dilemmas. Kerruish, N. J.; Robertson, S. P. // Journal of Medical Ethics;Jul2005, Vol. 31 Issue 7, p393 

    Scientific and technological advances are lending pressure to expand the scope of newborn screening. Whereas this has great potential for improving child health, it also challenges our current perception of such programmes. Standard newborn screening programmes are clearly justified by the fact...

  • ENDING THE LIFE OF A NEWBORN. Lindemann, Hilde; Verkerk, Marian // Hastings Center Report;Jan2008, Vol. 38 Issue 1, p42 

    The article discusses the Groningen Protocol established in the Netherlands, which aims to set a standard of practice for doctors to responsibly end the lives of severely impaired newborns. It examines the criticisms leveled against the protocol, specifically with regards to quality-of-life...

  • Neonatal morbidity and mortality associated with maternal haemolysis elevated liver enzymes and low platelets syndrome. Dötsch, J.; Hohmann, M.; Kühl, P. G. // European Journal of Pediatrics;1997, Vol. 156 Issue 5, p389 

    To compare the impact of maternal haemolysis, elevated liver enzymes and low platelets (HELLP) syndrome, uncomplicated hypertension in pregnancy (HIP), and no hypertension (controls) on neonatal morbidity and mortality, 108 infants were matched with respect to gestational age, date of birth, and...

  • Admission test as precursor of perinatal outcome: a prospective study. Khandelwal, Shivani; Dhanaraj, Mitra; Khandelwal, Atul // Archives of Gynecology & Obstetrics;Dec2010, Vol. 282 Issue 4, p377 

    Purpose: To test the reliability of the admission test to identify the compromised fetus and thus reduce the neonatal morbidity and mortality by early intervention. Methods: A prospective analysis over a period of 1 year from December 2007 to December 2008 included 100 antepartum patients and...

  • Hemolytic Disease of the Newborn (HDN). Vohr, Hans-Werner // Encyclopedic Reference of Immunotoxicology;2005, p282 

    A definition of the term "hemolytic disease of the newborn" is presented. It refers to a condition in which the lifespan of red cells or erythroid precursors of a fetus or newborn infant is shortened by the action of specific antibody derived from the mother by placental transfer. The outcome...

  • Fatal newborn varicella despite varicella zoster immunoglobulin prophylaxis. Marwah, Poonam; Marwah, Ashish // Indian Journal of Dermatology, Venereology & Leprology;Jan/Feb2014, Vol. 80 Issue 1, p65 

    The article presents a case study of a 9-day-old male patient with fever, respiratory distress, and non-acceptance of feeds. It describes the patient's condition who had erythematous, vesicular rash on his entire body. It notes that the patient did not have skin lesions or congenital...

  • Care seeking for fatal illness episodes in Neonates: a population-based study in rural Bangladesh.  // BMC Pediatrics;2011, Vol. 11 Issue 1, p88 

    The article presents a study focusing on care seeking for fatal illness episodes in neonates in rural Bangladesh. The study showed that a high proportion of neonatal deaths had received traditional care in rural area of Bangladesh, which highlights the need to develop community awareness...

  • The neonatal gut harbours distinct bifidobacterial strains. Fottrell, Edward; Osrin, David; Alcock, Glyn; Azad, Kishwar; Bapat, Ujwala; Beard, James; Bondo, Austin; Colbourn, Tim; Das, Sushmita; Carina King; Manandhar, Dharma; Manandhar, Sunil; Morrison, Joanna; Mwansambo, Charles; Nair, Nirmala; Nambiar, Bejoy; Neuman, Melissa; Phiri, Tambosi; Saville, Naomi; Sen, Aman // Archives of Disease in Childhood -- Fetal & Neonatal Edition;Sep2015, Vol. 100 Issue 5, pF405 

    Background: Recent studies have described the bifidobacterial composition of neonates at a species level; however, with advancing technologies we can gain insight into the diversity of the bifidobacterial microbiota residing within the infant gut. Objective: To compare species and strain...


Read the Article


Sign out of this library

Other Topics