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Inborn error of metabolism present in the neonatal period and characterized by tachypnea or Kussmaul breathing, hypotonia, and seizures. Severe metabolic acidosis with ketosis and hyperammonemia. If present during infancy and childhood, lethargy, hypotonia, seizures ataxia; apnea/hyperventilation, and frequent stridor are characteristic. Usually corrected with oral biotin.

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Biotinidase Deficiency; Holocarboxylase Synthetase Deficiency.

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First described in 1971 by Wolf et al. It was immediately observed that biotin administration was curative.

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1:112,000-129,000 live births (biotinidase deficiency).

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Autosomal recessive; more than 40 different mutations have been described. Gene locus on chromosome 3p25 (biotinidase) or 21q22.1 (holocarboxylase).

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Biotinidase is essential for generation of free biotin from endogenous recycling or protein-bound biotin found in diet. Holocarboxylase synthetase is required to catalyze binding of biotin to carboxylases. Biotin is required as a cofactor for carboxylases within the body, which are involved in the metabolic pathways for a number of amino acids, gluconeogenesis, and fatty acid synthesis. Defects in either enzyme lead to organic acidosis.

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Clinical features, particularly skin rash and alopecia, but variability of symptoms according to importance of deficiency and amount of free biotin intake. Organic aciduria. Deficiency of specific enzyme measured in plasma. Included in neonatal screening programs in many countries.

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Deficiency of holocarboxylase synthetase presents in more than 50% of cases in the neonatal period with tachypnea or Kussmaul breathing, hypotonia, and seizures. Severe metabolic acidosis with ketosis and hyperammonemia. Untreated patients and those with less severe defects present with mental retardation, hair loss, and skin lesions (erythematous rash often with superinfection with Candida). Deficiency of biotinidase presents later in infancy or childhood. Lethargy, hypotonia, seizures, ataxia; respiratory problems (apnea/hyperventilation, frequent stridor). Skin manifestations such as periorificial eczematoid dermatitis and alopecia are less common. Intermittent organic aciduria. Immune deficiency leads to recurrent infections. If untreated, psychomotor delay and permanent neurologic deficit (hearing loss, optic atrophy). Treatment: In both conditions there is a dramatic response to biotin, with resolution of clinical and biochemical abnormalities but not fixed neurologic sequelae. The dose of biotin varies from 2.5 to 5 mg/week (partial deficiency in biotinidase) to 2.5 to 10 mg/day (profound deficiency in biotinidase) or even more; 10 to 20 mg/day in case of holocarboxylase deficiency.

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Patient should be receiving his or her usual biotin supplements until the morning of surgery. However, if the patient has not received biotin supplementation, a complete evaluation of the cardiovascular, respiratory, and muscle functions should be done. Seizure medications should be continued until the morning of surgery.

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Anesthesia management in this condition has not been described. Patients who are receiving adequate supplementation with biotin may be free of clinical and biochemical abnormalities. Intravenous administration of biotin may be necessary in the perioperative period. Perioperative monitoring of glycemia, lactates, and ammonium (NH4). If the patient has not received his or her medication, then cardiovascular, respiratory, and muscular ...

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