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Glossary for 4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency

  • Anisocytosis: Variation in red blood cell size, commonly seen in anaemia
  • 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.
  • 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
  • Irritability: Excessive feelings of annoyance or frustration.
  • 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 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
  • Rapid breathing: Excessively rapid breathing
  • Spherocytosis: A rare blood disorder characterized by a defect of the red blood cell membrane which gives it a spherical shape rather than the normal doughnut shape.
  • Tyrosinemia: A rare genetic metabolic disorder characterized by a deficiency of particular enzymes which prevents the breakdown of tyrosine which then builds up in the liver.

 

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