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Glossary for Methylmalonic acidemia

  • Acid-Base Imbalance: A disruption to the normal acid-base equilibrium in the body. There are four main groups of disorder involving an acid-base imbalance: respiratory acidosis or alkalosis and metabolic acidosis or alkalosis. Obviously the severity of symptoms is determined by the degree of imbalance.
  • Acidemia, methylmalonic: An inborn error of metabolism where amino acids in the body aren't metabolized properly resulting in high levels of the acid throughout the body.
  • Blood conditions: Conditions that affect the blood
  • Chronic Kidney Disease: Long-term and generally irreversible disease of the kidneys due to infection, obstruction, congenital diseases or generalised diseases causing failure of the kidneys' normal functions.
  • Coma: Prolonged unconsciousness
  • 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.
  • Death: The cessation of life
  • Dehydration: Loss of fluids in the body
  • Drowsiness: Excessive tiredness or sleepiness
  • Failure to thrive: Slow growth or inadequate weight gain of an infant or child.
  • Genetic Disease: Any disease that is handed down to oneself through the chromosomes of ones parents
  • Hypoglycemia: Low blood sugar level
  • Lethargy: feeling of tiredness
  • Mental retardation -- dysmorphism -- hypogonadism -- diabetes: A very rare syndrome characterized mainly by mental retardation, hypogonadism, diabetes and facial and skull abnormalities.
  • Metabolic disorders: Disorders that affect the metabolic system in human
  • Methylmalonicaciduria, vitamin B12 unresponsive, mut 0: A metabolic disorder whose severity is somewhat variable - most patients die within months of birth with survivors having neurological problems. The condition involves abnormal metabolism of vitamin B12 which doesn't respond to treatment using vitamin B12 administration. This disorder is more severe than the mut (-) form
  • Organic acidemia: High blood levels of organic acids which is caused by abnormal protein metabolism. Maple syrup urine disease and propionic academia are examples of organic acidemias. Deficiency of certain metabolic enzymes one of the main causes of organic academia.
  • Pancreatic beta cell agenesis with neonatal diabetes mellitus: A very rare syndrome characterized mainly by abnormal development of the pancreas resulting in infant diabetes mellitus. The insulin-producing beta cells are absent from birth.
  • Pancreatitis: Inflammation of the pancreas causing digestive complaints.
  • Seizures: A rare syndrome characterized by mental retardation, seizures and high levels of hydroxylysine in the urine.
  • Vomiting: Vomiting or retching symptoms.

 

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