Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Print friendly version

Biotinidase deficiency


Other Names for this Disease

  • Biotin deficiency
  • BTD deficiency
  • Late-onset biotin-responsive multiple carboxylase deficiency
  • Late-onset multiple carboxylase deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Symptoms

Newline Maker

What are the signs and symptoms of biotinidase deficiency?

The signs and symptoms of biotinidase deficiency typically appear within the first few months of life, but the age of onset varies. Children with profound biotinidase deficiency, the more severe form of the condition, often have seizures, weak muscle tone (hypotonia), breathing problems, and delayed development. If left untreated, the disorder can lead to hearing loss, eye abnormalities and loss of vision, problems with movement and balance (ataxia), skin rashes, hair loss (alopecia), and a fungal infection called candidiasis. Immediate treatment and lifelong management with biotin supplements can prevent many of these complications.[1]

Partial biotinidase deficiency is a milder form of this condition. Affected children experience hypotonia, skin rashes, and hair loss, but these problems may appear only during illness, infection, or other times of stress.[1]

Last updated: 7/7/2011

The Human Phenotype Ontology provides the following list of signs and symptoms for Biotinidase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Abnormal blistering of the skin 90%
Abnormality of the immune system 90%
Cognitive impairment 90%
Hearing impairment 90%
Hypertrichosis 90%
Inflammatory abnormality of the eye 90%
Muscular hypotonia 90%
Nausea and vomiting 90%
Reduced consciousness/confusion 90%
Seizures 90%
Skin rash 90%
Alopecia 50%
Dry skin 50%
Incoordination 50%
Optic atrophy 50%
Weight loss 50%
Abnormal retinal pigmentation 7.5%
Aplasia/Hypoplasia of the cerebellum 7.5%
Hypertonia 7.5%
Muscle weakness 7.5%
Myopia 7.5%
Respiratory insufficiency 7.5%
Skin ulcer 7.5%
Visual field defect 7.5%
Apnea -
Ataxia -
Autosomal recessive inheritance -
Conjunctivitis -
Diarrhea -
Diffuse cerebellar atrophy -
Diffuse cerebral atrophy -
Feeding difficulties in infancy -
Hepatomegaly -
Hyperammonemia -
Lethargy -
Metabolic ketoacidosis -
Organic aciduria -
Recurrent skin infections -
Seborrheic dermatitis -
Splenomegaly -
Tachypnea -
Visual loss -
Vomiting -

Last updated: 12/1/2014

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


References
  1. Biotinidase deficiency. Genetics Home Reference (GHR). 2008; http://www.ghr.nlm.nih.gov/condition/biotinidase-deficiency. Accessed 7/7/2011.


Other Names for this Disease
  • Biotin deficiency
  • BTD deficiency
  • Late-onset biotin-responsive multiple carboxylase deficiency
  • Late-onset multiple carboxylase deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.