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Glossary for Biotinidase deficiency

  • Alopecia: Various types of hair loss or balding
  • Ataxia: It is a neurological sign and symptom consisting of gross lack of co-ordination of muscle movements.
  • Biotin deficiency: Vitamin H deficiency
  • Biotinidase deficiency, late onset: A metabolic disorder where the body lacks the enzyme biotinidase needed to process the vitamin called biotin (vitamin H) into carboxylase enzymes. The severity of symptoms may vary depending on the degree of deficiency. Severe cases can result in metabolic acidosis which can lead to death if treatment isn't given.
  • 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.
  • Fungal infections: Any condition caused by fungus.
  • Genetic Disease: Any disease that is handed down to oneself through the chromosomes of ones parents
  • Ketoacidosis: Life-threatening complication of high blood sugars and diabetes.
  • 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
  • Muscle weakness: A condition which is characterized by an inability of the muscles to function at their full strenght
  • Myoclonic seizures: Abnormal electrical activity in the brain which results in brief sporadic muscle jerking involving part or all of the body. The jerks may be minor or severe enough to result in collapse or involuntary throwing of objects. The episodes may occur as a single even or in a series of events. Consciousness is not affected during the seizure.
  • Optic atrophy: Dysfunction of the optic nerve which results in impaired vision. The disorder may be congenital or acquired. The rate and degree of atrophy is greatly variable depending on the cause.
  • Organic acidemia in children:
  • Poor feeding: Poor feeding (mostly in infants)


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