MCAD

Fig. 11. Distribution of Lp(a) lys+ (A) and lys- (B) levels in plasma of male patients with moderate coronary artery disease (MCAD) and serious coronary artery disease (SCAD). [With permission of Karmansky et al. (K8).]...

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

Answer D. Fasted MCAD patients typically present with nonketotic hypoglycemia, lactic acidosis, and plasma dicarbosylates. 

Spiiiover ofC6-C10 acyicarnitine species into the biood provides for very specific diagnosis of MCAD. 

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. 

The answer is D. The most likely diagnosis in this case is CPT-II deficiency, although this is apparently a fairly mild case. The patient s muscle weakness and brown urine (myoglobinuria) are characteristic of this disorder. CPT-I deficiency would most likely manifest as liver dysfunction. A secondary form of carnitine deficiency due to exogenous factors such as malnutrition, infection, or dialysis, is unlikely. MCAD ordinarily manifests within the first 3-5 years of life. The patient s normal stature is inconsistent with Marfan syndrome, which is characterized by tall stature and very long bones in the extremities. 

Fatty Oxidation Disorders (FOD) Family Support Group http www.fodsuppoit.oi mcad fam.htm... 

Save Babies Through Screening Foundation http www.savebabies.oi diseasedesciiption mcad.php... 

Gene Reviews - Clinical summary httpv/www.genetests.oi query dz=mcad... 

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. 

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