Effects+On+The+Body,+MCKCT

=﻿The Effects:=

The //HADHB// gene encodes the LCTH activity, whereas the //HADHA// genecontains the information for the other 2 enzymatic functions.The first step of the ß-oxidation cycle is catalyzedby acyl-CoA dehydrogenases, whereas the enzymes of MTP catalyzethe last 3 steps of ß-oxidation. Two biochemical phenotypes of defects concerning the MTP complexhave been described: isolated LCHAD deficiency and generalizedMTP deficiency, with decreased activities of all 3 enzymes.

=﻿Case Report:= The male patient was born at 35 weeks of gestation to healthy,nonconsanguineous parents of German extraction. The child was delivered by caesarian section because of fetal distress presumablycaused by placental dysfunction. The pregnancy was uncomplicated,with no indication of the HELLP syndrome (hemolysis, increasedliver enzymes, and low platelets) in the mother. Birth weightwas 1900 g (3rd percentile), length was 46 cm (10th percentile),head circumference was 30 cm (3rd percentile), and the Apgarscores were 4, 6, and 9 at 1, 5, and 10 min, respectively. Onesibling is healthy; another sibling was born prematurely after28 weeks of gestation and died at the age of 8 days, with nodefinitive diagnosis established. Soon after birth, our patientdeveloped [|tachypnea] and dyspnea and had to be put on mechanicalventilation. Because of respiratory distress syndrome, he wasgiven surfactant twice. An ophthalmologic examination was unrevealing.


 * American Association for Clinical Chemistry. June 9th 2011. Copyright 2006.