Holocarboxylase synthetase deficiency

Orpha code: 79242OMIM code: 253270

Definition

A 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.

Disease data
Classification

Disease

Synonyms
Early-onset multiple carboxylase deficiency
Złożony Niedobór karboksylazy noworodków
Złożony Niedobór karboksylazy o wczesnym początku
Neonatal multiple carboxylase deficiency
ORPHA code
79242
OMIM code
253270
ICD10 code
E53.8
ICD11 code
-

No additional description.

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