MCAD deficiency

Medium chain acyl CoA dehydrogenase (MCAD) deficiency, primary etiology hepatic... 

Chiidren affiicted with MCAD deficiency experience muscie weakness, iethargy, fasting hypo-giycemia, and hyperammonemia, which mayiead to seizures, coma and, potentiaiiy, brain damage and death. 

MCAD deficiency is inherited in an autosomai recessive manner with an incidence of 1 in 8500 in the United States. 

MCAD deficiency is more common than SCAD deficiency, which impairs oxidation of shortfatty acids, or LCHAD deficiency, which impairs oxidation of iong-chain (C12-C22) fatty acids. 

Principai treatments of MCAD deficiency are to avoid fasting (even overnight), to supplement with carnitine, and to manage infections aggressively. 

A method for quantitative acylcamitine profiling in human skin fibroblasts using unlabelled palmitic acid diagnosis of fatty acid oxidation disorders and differentiation between biochemical phenotypes of MCAD deficiency. 

Adult presentation of MCAD deficiency revealed by coma and severe arrythmias. 

Comment on "Whole blood levels of dodecanoic acid, a routinely detectable forensic marker for a genetic disease often misdiagnosed as sudden infant death syndrome (SIDS) MCAD deficiency". 

Genetic heterogeneity in MCAD deficiency frequency of K329E allele and identification of three additional mutant alleles. 

Genotypic differences of MCAD deficiency in the Asian population novel genotype and clinical symptoms preceding newborn screening notification. 

MCAD deficiency. Acylcamitines (AC) by tandem mass spectrometry (MS-MS) are useful to monitor dietary treatment. 

MCAD deficiency what family physicians need to know. 

Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency. 

Molecular and functional characterisation of mild MCAD deficiency. 

Molecular genetic characterization and urinary excretion pattern of metabolites in two families with MCAD deficiency due to compound heterozygosity with a 13 base pair insertion in one allele. 

Molecular survey of a prevalent mutation, 985A-to-G transition, and identification of five infrequent mutations in the medium-chain Acyl-CoA dehydrogenase (MCAD) gene in 55 patients with MCAD deficiency. 

Rapid diagnosis of MCAD deficiency quantitative analysis of octanoylcamitine and other acylcamitines in newborn blood spots by tandem mass spectrometry. 

Scottish frequency of the common G985 mutation in the medium-chain acyl-CoA dehydrogenase (MCAD) gene and the role of MCAD deficiency in sudden infant death syndrome (SIDS). 

The detection of abnormal metabolites in MCAD deficiency a new method. 

The difference between observed and expected prevalence of MCAD deficiency in The Netherlands a genetic epidemiological study. 

MCAD deficiency in the Holderman Mennonite population in central Kansas. 

Prolonged moderate-intensity exercise without and with L-camitine supplementation in patients with MCAD deficiency. 

Hexanoylglycine C6 Hexanoyl- CoA (FAO) MCAD deficiency Glutaric acidemia type II... 

Fig. 3.1.7 Detection of HG by the GC-MS TIC method in the urine of patients with MCAD deficiency collected at different clinical statuses. A, left panel Organic acid profile of an acutely ill patient. The arrow indicates the portion of the chromatogram shown in the middle panel. Peak labeling 1 HG, 2 4-hydroxyphenylacetic acid. Right panel extracted ion chromatograms of the [M-15]+ ion of HG (m/z 230 red) and 4-hydroxyphenylacetic acid (m/z 281). Patient recovering from an acute episode. C Asymptomatic patient. The latter profile represents a situation where there is a high probability that HG may not be detected by a GC-MS TIC method...

C8 Octanoyl- MCAD deficiency, M/SCHAD deficiency, MKAT deficiency, GA-2... 

To put the discussion described above in a practical illustration, I have included a mass spectrum from a newborn blood spot of a patient confirmed to have medium-chain acyl coenzyme A dehydrogenase (MCAD) deficiency. Figure 8.1.3 is an acylcarnitine profile obtained from a methanol extract of a dried blood spot. Stable-isotope acylcarnitine internal standards were mixed with the methanol extracting solvent at a concentration that is equivalent to 1 or 2 pmol/1 of blood. The concentrations of each internal standard are marked on the illustration by the clear hexagons. 

This extract was derivatized to make butyl esters of the acylcarnitines and analyzed using precursors of a 85-Da scan. The common fragment of acylcarnitine butyl esters is an ion at m/z 85 and all acylcarnitines share this common product. The spectra show the precursor ions or molecular ions that were being scanned at the time, detected at m/z 85 for both the internal standards and endogenous acylcarnitines. To the left, or lower mass values, the metabolites of interest are labeled as, for example, , C8, C16. Those acylcarnitines that are key to the detection of MCAD deficiency are underlined. 

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