Multiple carboxylase deficiency

Classification according to ICD-10
E53.8	Deficiency of other specified vitamins of the vitamin B complex deficiency
ICD-10 online (WHO version 2019)

A multiple carboxylase deficiency is a very rare congenital , autosomal recessive inherited metabolic disorder .

A distinction is made between two forms:

• Holocarboxylase synthase deficiency , synonym: holocarboxylase synthase deficiency; English holocarboxylase synthetase deficiency; HCS , manifestation already in the newborn age
• Biotinidase deficiency , synonym: Multiple carboxylase deficiency occurring late; English biotinidase deficiency; late-onset multiple carboxylase deficiency , disease outbreak at a later point in life

distribution

The frequency is not known, the inheritance is done autosomal - recessive .

literature

• ER Baumgartner, T. Suormala: Multiple carboxylase deficiency: inherited and acquired disorders of biotin metabolism. In: Int. J. Vitam. Nutr. Res. Volume 67, No. 5, 1997, pp. 377-384 PMID 9350481 .
• WL Nyhan: Multiple carboxylase deficiency. In: The International journal of biochemistry. Volume 20, Number 4, 1988, pp. 363-370, PMID 3284772 (Review).

Individual evidence

1. ↑ ^{a b} Multiple carboxylase deficiency. In: Orphanet (Rare Disease Database).
2. ↑ Holocarboxylase synthetase deficiency. In: Orphanet (Rare Disease Database).

This article is about a health issue. It is not used for self-diagnosis and does not replace a diagnosis by a doctor. Please note the information on health issues !