reagents needed to screen phenylketonuria, Ga-1, Mcad and lchad
to be performed by mass spectrometry (ms).
The changes of LCHAD
in preeclampsia with different clinical features and the correlation with NADPH P47-phox, p38MAPK-a, COX-2 and serum FFA and TG (in Chinese).
El material biologico empleado en el presente estudio ha sido fibroblastos de 2 pacientes con deficiencia de LCHAD
. Esta deficiencia fue confirmada por estudios enzimaticos, moleculares, o ambos.
He advised performing genetic tests on the mother, father, and infant for the various mutations that can occur to the LCHAD
gene, because the infant is at risk of sudden death, cardiomyopathy, and neuromyopathy.
[sup] In early- and mid-onset preeclampsia-like mouse models, LCHAD
protein expression was significantly reduced in the placenta, but the late-onset model showed no significant difference from controls, [sup] suggesting that different onset times of preeclampsia may result in different lipid metabolism.
Commonly measured acylcarnitines and their associated disorders Analyte Disorder C0 free carnitine carnitine transporter deficiency C3 propionylcarnitine propionic and methylmalonic acidemia C4 butyrylcarnitine SCAD deficiency isobutyrlcarnitine isobutyryl dehydrogenase deficiency C5 isovalerylcarnitine isovaleric acidemia C5DC glutarylcarnitine glutaric aciduria type 1 C50H hydroxyglutarylcarnitine 3-methylcrotonylcarboxylase and 3-HMG CoA lyase deficiency C8 octanoylcarnitine MCAD deficiency C14:1 tetradecenoylcarnitine VLCAD deficiency C16 palmitoylcarnitine CPT II, carnitine translocase deficiency C180H hydroxyoctadecanoylcarnitine LCHAD
, trifunctional protein deficiency Note: This list is not meant to be complete.
The 3 enzymes involved are long-chain enoyl-CoA hydratase (LCEH), long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD
), and long-chain 3-ketoacyl-CoA thiolase (LCTH).
Para la deficiencia de MCAD y LCHAD
, donde existe una mutacion prevalente en, aproximadamente, un 90% de los alelos (Tabla 1), no seran en general necesarios los estudios enzimaticos, ya que sera mucho mas rapido y sencillo proceder al diagnostico a traves del analisis de la mutacion prevalente.
Subsequently, we have found the assay to be useful not only as a diagnostic tool, but also for monitoring treatment and health status in long-chain 3-hydroxyacyl CoA dehydrogenase (LCHAD
It is important to note than increased C14 and C14:1 may be produced in other disorders as well, such as carnitine palmitoyltransferase II (CPT II), carnitine/acylcarnitine translocase (CACT), MADD, and long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD
LCHAD--3-Hydroxy Long Chain Acyl-CoA Dehydrogenase Deficiency--Typical symptoms of LCHAD
are hypoglycemia, lethargy, failure to thrive, and developmental delay, often accompanied by hypotonia and cardiomyopathy.
Samples were also obtained from two patients diagnosed with deficiency in long-chain L-3-hydroxyacyl-CoA-dehydrogenase (LCHAD