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Our study has revealed the unique genetic backgrounds of MCAD deficiency among Japanese, based on the largest series of non-Caucasian cases.
17 VUS (37%; 7 in ACADM, 9 in GALT, and 1 in PAH) were reclassified from uncertain (6 to benign or likely benign and 11 to pathogenic or likely pathogenic). We identified common types of missing information that would have helped make a definitive classification and categorized this information by ease and cost to obtain
Subjects with neonatal symptoms, or neonatal abnormal labs, or neonatal triggers were more likely to have at least one copy of the severe c.985A>G ACADM gene mutation
Exclusively breastfed neonates with MCAD are at risk for early metabolic decompensation. As breastfeeding rates increase, close management of feeding difficulties is essential for all neonates awaiting newborn screening results
The in silico structural changes in medium-chain acyl-CoA dehydrogenase (hMCAD) p.K329E variant protein affect the disturbed oligomeric profile, thermal stability, and conformational flexibility, with respect to the wild-type.
LCHAD (show HADHA Proteins) and MCAD are differentially expressed in maternal and fetal tissues during normal late pregnancy, which may represent a metabolic adaptation in response to physiological maternal dyslipidemia during late pregnancy.
Study determined three mutations (p.R53C, p.R281S and p.G362E) in MCAD protein predisposing for MCAD deficiency which seems to be unique to Japanese population.
our study demonstrates that not all mutations identified in children with abnormal NBS (show NBN Proteins) profiles suggestive of MCAD deficiency result in a total loss in MCAD activity and function
mutations in the ACADM gene lower the temperature threshold at which medium-chain acyl-CoA dehydrogenase deficiency loss-of-function occurs.
Segregation studies in the Gypsy families showed that 93/123 relatives were carriers of the acyl-coenzyme A (show SOAT2 Proteins) dehydrogenase G985 allele, suggesting its high prevalence in this ethnic group.
Investigation of ACADM in relation to fat deposition traits.
Investigation of structure of enzyme (from kidney) complexed with FAD analogs (e.g., 8-NH2-FAD) and acyl-CoA (e.g., octanoyl-CoA).
ACADM and ALDH2 (show ALDH2 Proteins) were predicted to be the target genes of miR (show MYLIP Proteins)-224
the transcriptional regulatory circuits involved in the control of MCAD gene expression under hypoxic conditions are modulated by upstream factors that are sensitive to the levels of oxygen
MCAD is reduced in liver, heart & kidney in lipopolysaccharide-induced acute phase response; binding liver nuclear extracts to ERRalpha (show ESRRA Proteins) response element found in promoter region of MCAD was decreased during APR (show PMAIP1 Proteins), suggesting less transcription of MCAD
The MCAD-/- mice developed an organic aciduria and fatty liver, and showed profound cold intolerance at 4 degrees C with prior fasting.
MCAD deficiency in mice leads to specific changes in hepatic carbohydrate management on exposure to metabolic stress.
A high-fat diet increases adiposity but maintains mitochondrial oxidative enzymes (MCAD/citrate synthase (show CS Proteins)) without affecting development of heart failure with pressure overload.
This gene encodes the medium-chain specific (C4 to C12 straight chain) acyl-Coenzyme A dehydrogenase. The homotetramer enzyme catalyzes the initial step of the mitochondrial fatty acid beta-oxidation pathway. Defects in this gene cause medium-chain acyl-CoA dehydrogenase deficiency, a disease characterized by hepatic dysfunction, fasting hypoglycemia, and encephalopathy, which can result in infantile death. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.
acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain
, medium-chain specific acyl-CoA dehydrogenase, mitochondrial
, medium-chain acyl-CoA dehydrogenase
, acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain, nuclear gene encoding mitochondrial protein
, C-4 to C-12 straight chain acyl-coenzyme A dehydrogenase
, acyl-coenzyme A dehydrogenase, C-4 to C-12 straight chain
, acyl-CoA dehydrogenase, C-4 to C-12 straight chain
, medium-chain specific acyl-CoA dehydrogenase, mitochondrial-like
, Acyl-Coenzyme A dehydrogenase C-4 to C-12 straight-chain
, Acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight-chain
, acyl-Coenzyme A dehydrogenase, medium chain
, mitochondrial medium-chain specific acyl-Co dehydrogenase-like protein