Holocarboxylase synthetase deficiency
MONDO:0009666A rare, early-onset and life-threatening, multiple carboxylase deficiency that when left untreated, is characterized by vomiting, tachypnea, irritability, lethargy, exfoliative dermatitis, and seizures that can worsen to coma and death.
Also known as: multiple carboxylase deficiency, early-onset multiple carboxylase deficiency, holocarboxylase synthase deficiency, holocarboxylase synthetase deficiency, neonatal multiple carboxylase deficiency, HLCS deficiency, multiple carboxylase deficiency, early onset, multiple carboxylase deficiency, neonatal form
2 clinical trials for this condition and its sub-types.
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Disease
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Metabolic disease
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Hereditary disease
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Inborn errors of metabolism
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Human disease
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Inborn organic aciduria
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Inborn disorder of amino acid metabolism
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Carbohydrate metabolism disease
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Disease of genetic or genomic mechanism
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Inborn carbohydrate metabolic disorder
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