U.S. flag

An official website of the United States government


Send to:

Choose Destination
  • Quoted phrase not found.

Decreased circulating biotinidase concentration

MedGen UID:
Concept ID:
Synonym: Decreased biotinidase level
HPO: HP:0410145


Concentration of biotinidase in the blood circulation below the lower limit of normal. Biotidinase is an enzyme that releases biotin from biocytin, the product of biotin-dependent carboxylases degradation. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDecreased circulating biotinidase concentration

Conditions with this feature

Biotinidase deficiency
MedGen UID:
Concept ID:
Disease or Syndrome
If untreated, young children with profound biotinidase deficiency usually exhibit neurologic abnormalities including seizures, hypotonia, ataxia, developmental delay, vision problems, hearing loss, and cutaneous abnormalities (e.g., alopecia, skin rash, candidiasis). Older children and adolescents with profound biotinidase deficiency often exhibit motor limb weakness, spastic paresis, and decreased visual acuity. Once vision problems, hearing loss, and developmental delay occur, they are usually irreversible, even with biotin therapy. Individuals with partial biotinidase deficiency may have hypotonia, skin rash, and hair loss, particularly during times of stress.

Recent clinical studies


Montoro-García S, Shantsila E, Orenes-Piñero E, Lozano ML, Lip GY
Thromb Haemost 2012 Aug;108(2):373-83. Epub 2012 Jun 28 doi: 10.1160/TH12-02-0120. PMID: 22740162

Supplemental Content

Table of contents

    Clinical resources

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...