Long-chain LCHAD

LCHAD long chain 3-hydroxyacyl-CoA dehydrogenase mtDNA mitochondrial DNA... 

Another antibiotic that may cause problems in the interpretation of butylated acylcarnitines is cefotaxime (Fig. 3.2.5d) [63]. This antibiotic, or metabolites thereof, reveals itself by acylcarnitine analysis at m/z 470, which is otherwise considered to represent the monounsaturated form of 3-hydroxy hexadecenoylcarnitine (Ci i-OH). In poorly resolved scans this may be difficult to differentiate from m/z 472, which is a marker for LCHAD and TFP deficiencies. However, whereas m/z 472 (C16-OH) is more abundant than C16 1-OH in these FAO disorders, the profile of a patient treated with cefotaxime usually reveals an m/z 470 to m/z 472 ratio that is greater than 1. Furthermore, and in contrast to cefotaxime treatment, both LCHAD and TFP deficiencies are usually accompanied by elevations of other long-chain species (Table 3.2.1) [57]. 

LCHAD deficiency 600890 Long-chain 3 -hydroxyacyl-Co A dehydrogenase >1 75,000 Cardiomyopathy, liver disease, retinopathy, peripheral neuropathy AFLP, HELLP syndrome, preeclampsia, placental floor infarction... 

Associated biochemical defect Fetal deficiencies of long chain 3-hydroxyacyl-coenzyme A dehydrogenase (LCHAD). 

As noted above, there have been reports that link some cases of APLP with a defect in fatty acid metabolism in the fetus. These include fetal deficiencies of long chain 3-hydroxyacyl-coenzyme A dehydrogenase (LCHAD), carnitine-palmitoyl transferase 1 (CPT 1), and medium chain acyl-coenzyme A dehydrogenase (MCAD). The mechanism by which defective fetal fatty acid oxidation causes maternal illness is not known. However, since the fetus uses primarily glucose metabolism for its energy needs, it is likely that toxic products from the placenta, which does use fatty acid oxidation, cause the maternal liver failure. 

The long chain defects, very long-chain acyl-CoA dehydrogenase deficiency (VLCAD) and long-chain 3-hydroxacyl-CoA dehydrogenase deficiency (LCHAD), generally give a low P/M ratio. The mean P/M ratio for LCHAD is 0.60 0.07 (n = 18) and... 

The introduction of our [9,10- H]oleate assay has given improved discrimination in the detection of long chain defects especially enabling us to confidently detect all cases of both LCHAD and VLCAD. ... 

Figure 5. The data show how patients with confirmed or suspected defects of the mitochondrial respiratory chain can be separated from patients with confirmed long chain fatty acid oxidation defects (data from Figure 4 plus 8 cases of LCHAD). In each case the release of H O from [9,10- H)myristate, [9,10- H]palmitate and [9,10- H]oleate was determined in parallel with at least 3 unaffected cell lines (not all control data plotted). All determinations were in duplicate and the activities for the individual cell lines are expressed as a proportion of the assay mean.

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHAD)... 

Gutierrez Junquera C, et al. Acute fatty liver of pregnancy and neonatal long-chain 3-hydroxyacyl-coenzyme A dehydrogenase (LCHAD) deficiency. Eur J Pediatr. 2009 168(l) 103-6. 

Long-Chain 3-Hydroxyacyl-Coenzyme A Dehydrogenase (LCHAD) Deficiency... 

Fig. 23.1 Body composition and lipid deposition. Data are presented as means SD. (a) There is a trend for long-chain 3-hydroxy acyl-CoA dehydrogenase (LCHAD)-deficient patients (n = 9 closed bars) to have less fat-free mass and more fat mass compared with control subjects (n = 9 open bars) when expressed as %body mass, (b) There was no difference in fat-free or fat mass expressed as mass/surface area between groups, (c) There was a trend for LCHAD-deficient patients (n = 9 closed bars) to have more extramyocellular Upid EMCL) but no difference in intramyocellular lipid IMCL) compared with...

Fig. 23.5 Positive impact of a long-chain fatty acid restriction eind supplementation of MCT on acylcarnitines in patients with LCHAD or TFP deficiency...

The patient is a three (3) day old female who was admitted to the intensive care unit with hypoglycemia and cardiomyopathy. Her presumed diagnosis is LCHAD based on elevated long-chain hydroxyl-acylcamitines. She weighs 3.0 kg and is breast-feeding... 

Gillingham MB, et al. Metabolic control during exercise with and without medium-chain triglycerides (MCT) in children with long-chain 3-hydroxy acyl-CoA dehydrogenase (LCHAD) or trifunctional protein (TFP) deficiency. Mol Genet Metab. 2006 89(l-2) 58-63. 

Long-chain 3-hydroxyxacyl-CoA dehydrogenase (LCHAD) Trifunctional protein... 

A Long-chain 3-hydroxyacyl-CoA dehydrogen- LCHAD-a FB, WBC, liver, muscle 2p23 600890... 

Table 14.8A,B. Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHAD-a and LCHAD-j ) (>100 patients) ...

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