Biotinidase deficiency definition

Biotinidase deficiency means a congenital disorder characterized by defective biotinidase activity that causes abnormal biotin metabolism.

Biotinidase deficiency means an inherited disease caused by the lack of an enzyme that recycles the B vitamin biotin, which if not treated may cause serious complications, including coma and death.

Biotinidase deficiency means a deficiency of an enzyme (biotinidase) that facilitates the body's recycling of biotin. The result is biotin deficiency, which if undetected and untreated, may result in severe neurological damage or death.

Examples of Biotinidase deficiency in a sentence

• Biotinidase deficiency can lead to seizures, developmental delay, skin rash, and hearing loss.

• Delete ICD-10-CM D81.810 (Biotinidase deficiency) from line 192 HEREDITARY ANGIOEDEMA2) For the January 1, 2024 Prioritized List:a.

• Biotinidase deficiency GeneralBiotinidase deficiency is screened for in 10 countries (see table 2).

• Biotinidase deficiency: initial clinical features and rapid diagnosis.

• Biotinidase deficiency: prevalence, impact and management strategies.

• Learn how to connect people with appropriate supportsA poster presentation describing the Alaska Gatekeeper Training model redevelopment was prepared for the 2014 SAMSHA State/Tribal Youth Suicide Prevention Cooperative Agreement grantee meeting in Washington DC.

• Biotinidase deficiency received the highest scores for the criteria efficacy of early vs late treatment and timely availability of test results (Figure 6).

• For the purpose of this chapter amino acid disorders include: Argininosuccinic aci- demia (ASA), citrullinemia (CIT), homocystinuria (HCY), maple syrup urine disease (MSUD), phenylketonuria (PKU), and tyrosinemia type I (TYR I).(2) "Board" means the Washington state board of health.(3) "Biotinidase deficiency" means a deficiency of an enzyme (biotinidase) that facilitates the body's recycling of biotin.

• Repeat specimens were uniformly screened for: Galactosemia(s), Congenital Hypothyroidism, and Congenital Adrenal Hyperplasia.Repeat specimens with a previous abnormal result for disorders identified by Mass Spectrometry/Mass Spectrometry (MS/MS) testing, Biotinidase deficiency, Cystic fibrosis, Severe Combined Immunodeficiency, and hemoglobinopathies are retested on subsequent specimens finding other than normal.

• Evercore, as financial adviser to Connells and Skipton, is satisfied that sufficient resources are available to Connells to satisfy in full the Cash Consideration payable to Countrywide Shareholders under the terms of the Acquisition.

More Definitions of Biotinidase deficiency

Biotinidase deficiency means a congenital metabolic disorder characterized by abnormal biotinidase production which causes mental if not treated early in life defective biotinidase activity that causes abnormal biotin metabolism.

Biotinidase deficiency means a deficiency of an enzyme (biotinidase) that facilitates the body's recycling of biotin. The result is biotin deficiency, which if undetected

Biotinidase deficiency means a deficiency of an enzyme (biotinidase) that facilitates the body's recycling of biotin. The re­ sult is biotin deficiency, which if undetected and untreated, may re­ sult in severe neurological damage or death.

Biotinidase deficiency means a deficiency of an enzyme (biotinidase) that facilitates the body's recycling of

Biotinidase deficiency means a congenital metabolic disorder characterized by abnormal biotinidase production which causes mental retardation if not treated early in life.