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Glossary for Medium-Chain Acyl-CoA Dehydrogenase Deficiency

  • Breathing difficulties: Various types of breathing difficulty (dyspnea).
  • Congenital conditions: Any condition that you are born with such as birth defects or genetic diseases.
  • Congenital metabolic disorders: Congenital (birth) defects affecting any metabolic systems.
  • Genetic Disease: Any disease that is handed down to oneself through the chromosomes of ones parents
  • Hepatocellular jaundice: A condition which is characterized by jaundice due to injury or damage to the hepatocellular cells of the liver
  • Lack of energy: When a person is lackadaisical and without energy
  • Lethargy: feeling of tiredness
  • Lipid metabolism conditions: Disorders affecting the metabolism of lipids (blood fats), including cholesterol.
  • Liver problems: Any problems that are associated with the livers structure and function
  • Low blood sugar: Low blood sugar level
  • Metabolic Acidosis: Metabolic acidosis is a process which if unchecked leads to acidemia (i.e. blood pH is low (less than 7.35) due to increased production of H+ by the body or the inability of the body to form bicarbonate (HCO3-) in the kidney.
  • Metabolic disorders: Disorders that affect the metabolic system in human
  • SCHAD deficiency: A rare genetic disorder involving the deficiency of an enzyme (hydroxyacyl-coa dehydrogenase). The severity of the symptoms is highly variable with some cases resulting in death during the first decade while others suffer psychomotor and regression. Symptoms tend to be more severe in males who suffer progressive neurodegeneration whereas females tend to suffer mainly from developmental delay.
  • Seizures: A rare syndrome characterized by mental retardation, seizures and high levels of hydroxylysine in the urine.
  • Sudden Infant Death Syndrome: SIDS is a syndrome marked by the symptoms of sudden and unexplained death of an apparently healthy infant aged one month to one year.
  • VLCAD deficiency: A rare condition that is characterised by cardiomyopathy, fatty liver, skeletal myopathy, pericardial effusions, ventricular arrhythmias, and sudden death
  • Vomiting: Vomiting or retching symptoms.

 

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