DeCS Server - List Exact Term

Search on:	MULTIPLE CARBOXYLASE DEFICIENCY
Descriptors Found:	1
Displaying:	1 .. 1

1 / 1

DeCS

Descriptor English:

Multiple Carboxylase Deficiency

Descriptor Spanish:

Deficiencia Múltiple de Carboxilasa

Descriptor Portuguese:

Deficiência Múltipla de Carboxilase

Synonyms English:

Carboxylase Deficiency, Multiple
Combined Carboxylase Deficiency

Tree Number:

Definition English:

A deficiency in the activities of biotin-dependent enzymes (propionyl-CoA carboxylase, methylcrotonyl-CoA carboxylase, and PYRUVATE CARBOXYLASE) due to one of two defects in BIOTIN metabolism. The neonatal form is due to HOLOCARBOXYLASE SYNTHETASE DEFICIENCY. The late-onset form is due to BIOTINIDASE DEFICIENCY.

See Related English:

History Note English:

Allowable Qualifiers English:

Record Number:

19252

Unique Identifier:

D009100

Similar: