Biotinidase Deficiency

Description

Biotinidase deficiency is a late-onset form of multiple carboxylase deficiency (see this term), an inborn error of biotin metabolism that, if untreated, is characterized by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development.

Clinical Features

Top most frequent phenotypes and symptoms related to Biotinidase Deficiency

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Ataxia
  • Growth delay
  • Sensorineural hearing impairment
  • Muscle weakness
  • Muscular hypotonia

And another 51 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Based on the latest data available BIOTINIDASE DEFICIENCY have a estimated prevalence of 1.6 per 100k worldwide.
No data available about the known clinical features onset.

Alternative names

Biotinidase Deficiency Is also known as multiple carboxylase deficiency, late-onset, multiple carboxylase deficiency, juvenile-onset, btd deficiency, late-onset multiple carboxylase deficiency, juvenile-onset multiple carboxylase deficiency.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Biotinidase Deficiency Recommended genes panels

Panel Name, Specifity and genes Tested/covered
BTD Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

BTD
Specificity
100 %
Genes
100 %
BTD Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

BTD
Specificity
100 %
Genes
100 %
BTD Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

BTD
Specificity
100 %
Genes
100 %
BTD Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

BTD
Specificity
100 %
Genes
100 %
MitoMetĀ®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
100 %
GeneAware Complete Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories (United States).

RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, BTK , (...)

View the complete list with 139 more genes
Specificity
1 %
Genes
100 %
GeneAware Complete Panel Version 2 (Male).

By Baylor Miraca Genetics Laboratories (United States).

RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, TGM1 , (...)

View the complete list with 129 more genes
Specificity
1 %
Genes
100 %
Biotinidase deficiency.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

BTD
Specificity
100 %
Genes
100 %

We have 78 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM MESH Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SEIZURES, BENIGN FAMILIAL NEONATAL, 2; BFNS2 LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA; LADCI DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3; DUH3 CARPENTER SYNDROME 1; CRPT1 GLUT1 DEFICIENCY SYNDROME 2; GLUT1DS2 CHOREOATHETOSIS AND CONGENITAL HYPOTHYROIDISM WITH OR WITHOUT PULMONARY DYSFUNCTION; CAHTP

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