Biotinidase Deficiency

Biotinidase deficiency Causes, Symptoms and Treatment and Related Disorders ...

Biotinidase deficiency
National Organization for Rare Disorders, Inc.
Synonyms ...

Biotinidase deficiency
By Sallie Boineau Freeman PhDThe Gale Group Inc., Gale.. Gale Encyclopedia of Genetic Disorders Part I, 2002more »
Definition ...

What is biotinidase deficiency?
Biotinidase deficiency is an inherited disorder in which the body is unable to reuse and recycle the vitamin biotin.

Biotinidase deficiency is an inherited disorder in which the body is unable to reuse and recycle the vitamin biotin.

Biotinidase Deficiency
Biotinidase deficiency, a rare inherited condition, is often associated with seizures, skin disorders, bald spots, hearing loss, visual disturbances, and developmental delay.

Biotinidase deficiency: an enzyme deficiency that can result in physical and mental problems.
Congenital adrenal hyperplasia: CAH is characterized by an imbalance in hormones; some are higher than normal, some are lower.

biotinidase deficiency - an inherited disorder characterized by a deficiency of the biotinidase enzyme needed to metabolize a B vitamin.
bonding - process of falling in love with a newborn baby.

Biotinidase deficiency
Congenital adrenal hyperplasia
Congenital hypothyroidism
Cystic fibrosis (see also: Neonatal cystic fibrosis screening)
Fatty acid metabolism disorders: ...

Biotinidase deficiency ... respiratory problems
Biotinidase deficiency, late onset ... breathing problems
Biphasic Mesothelioma ... Chest pain, Respiratory difficulty
Bird allergy ...

Multiple carboxylase deficiency, due to biotinidase deficiency
Multiple Cartilaginous Enchondroses
Multiple Cartilaginous Exostoses
Multiple Enchondromatosis
Multiple Endocrine Adenomatosis
Multiple Endocrine Adenomatosis ...

Most states test for specific inherited diseases (see Inherited Disorders of Metabolism), including phenylketonuria, tyrosinemia, biotinidase deficiency, homocystinuria, maple syrup urine disease, galactosemia, congenital adrenal hyperplasia, ...

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 also: Deficiency, Symptom, Death, Diabetes, Cancer