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BTD DEFICIENCY
MCID: BTN003
MIFTS: 62
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Biotinidase Deficiency (BTD DEFICIENCY)
Categories:
Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Biotinidase Deficiency:
Characteristics:Orphanet epidemiological data:58
biotinidase deficiency
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal; OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive
Miscellaneous:
age of onset usually 1 week to 2 years HPO:31GeneReviews:25
Penetrance Almost all children with profound biotinidase deficiency become symptomatic or are at risk of becoming symptomatic if not treated....
Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Anatomical: Neuronal diseases Skin diseases
ICD10:
33
Orphanet: 58
Rare neurological diseases
Rare skin diseases
Inborn errors of metabolism External Ids:
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GARD :
20
Biotinidase deficiency is an inherited disorder in which the body is unable to recycle the vitamin biotin. The disorder may become apparent in the first few months of life, or later in childhood. The more severe form of the disorder is called 'profound biotinidase deficiency' and may cause delayed development, seizures, weak muscle tone (hypotonia), breathing problems, hearing and vision loss, problems with movement and balance (ataxia), skin rashes, hair loss (alopecia), and a fungal infection called candidiasis. The milder form is called 'partial biotinidase deficiency'; without treatment, affected children may experience hypotonia, skin rashes, and hair loss. In some cases, these symptoms only appear during illness, infection, or other times of stress on the body. Biotinidase deficiency is caused by mutations in the BTD gene and is inherited in an autosomal recessive manner. Lifelong treatment with biotin can prevent symptoms and complications from occurring or improve them if they have already developed.
MalaCards based summary : Biotinidase Deficiency, also known as late-onset multiple carboxylase deficiency, is related to holocarboxylase synthetase deficiency and biotin deficiency, and has symptoms including seizures, ataxia and vomiting. An important gene associated with Biotinidase Deficiency is BTD (Biotinidase), and among its related pathways/superpathways are Biotin metabolism and Vitamin digestion and absorption. The drugs Folic acid and Biotin have been mentioned in the context of this disorder. Affiliated tissues include brain, skin and eye, and related phenotypes are organic aciduria and metabolic ketoacidosis Disease Ontology : 12 A multiple carboxylase deficiency that involves a deficiency in biotinidase. MedlinePlus Genetics : 43 Biotinidase deficiency is an inherited disorder in which the body is unable to recycle the vitamin biotin. If this condition is not recognized and treated, its signs and symptoms typically appear within the first few months of life, although it can also become apparent later in childhood.Profound biotinidase deficiency, the more severe form of the condition, can cause seizures, weak muscle tone (hypotonia), breathing problems, hearing and vision loss, problems with movement and balance (ataxia), skin rashes, hair loss (alopecia), and a fungal infection called candidiasis. Affected children also have delayed development. Lifelong treatment can prevent these complications from occurring or improve them if they have already developed.Partial biotinidase deficiency is a milder form of this condition. Without treatment, affected children may experience hypotonia, skin rashes, and hair loss, but these problems may appear only during illness, infection, or other times of stress. OMIM® : 57 Multiple carboxylase deficiency (MCD) is an autosomal recessive metabolic disorder characterized primarily by cutaneous and neurologic abnormalities. Symptoms result from the patient's inability to reutilize biotin, a necessary nutrient. Sweetman (1981) recognized that multiple carboxylase deficiency could be classified into early (see 253270) and late forms. The early form showed higher urinary excretion of 3-hydroxyisovaleric acid and 3-hydroxypropionic acid than the late form and was associated with normal plasma biotin concentrations. Sweetman (1981) proposed a defect in holocarboxylase synthetase and intestinal biotin absorption, respectively. Some patients with biotinidase deficiency present in infancy (Baumgartner et al., 1985; Kalayci et al., 1994), and some individuals with this deficiency are asymptomatic (Wolf et al., 1997). (253260) (Updated 05-Mar-2021) KEGG : 36 Biotinidase deficiency is an autosomal recessive metabolic disorder in which the biotinidase is defective and the biotin is not recycled. Patients often exhibit feeding or breathing difficulties, skin rash, alopecia, hypotonia and seizures. Biotin treatment can ameliorate or prevent symptoms. UniProtKB/Swiss-Prot : 73 Biotinidase deficiency: A juvenile form of multiple carboxylase deficiency, an autosomal recessive disorder of biotin metabolism, characterized by ketoacidosis, hyperammonemia, excretion of abnormal organic acid metabolites, and dermatitis. Biotinidase deficiency is characterized by seizures, hypotonia, skin rash, alopecia, ataxia, hearing loss, and optic atrophy. If untreated, symptoms usually become progressively worse, and coma and death may occur. Wikipedia : 74 Biotinidase deficiency is an autosomal recessive metabolic disorder in which biotin is not released from... more...
GeneReviews:
NBK1322
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Human phenotypes related to Biotinidase Deficiency:58 31 (show top 50) (show all 56)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:253260 (Updated 05-Mar-2021)UMLS symptoms related to Biotinidase Deficiency:seizures, ataxia, vomiting, apnea, lethargy, diarrhea, exanthema, unspecified visual loss GenomeRNAi Phenotypes related to Biotinidase Deficiency according to GeneCards Suite gene sharing:26 (show all 28)
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Drugs for Biotinidase Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 10)
Interventional clinical trials:
Cochrane evidence based reviews: biotinidase deficiency |
MalaCards organs/tissues related to Biotinidase Deficiency:40
Brain,
Skin,
Eye,
Spinal Cord,
Liver,
Kidney,
Pancreas
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Articles related to Biotinidase Deficiency:(show top 50) (show all 452)
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Genes related to Biotinidase Deficiency (1 elite genes):(show all 18) - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Biotinidase Deficiency:6 (show top 50) (show all 334)
UniProtKB/Swiss-Prot genetic disease variations for Biotinidase Deficiency:73
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Search
GEO
for disease gene expression data for Biotinidase Deficiency.
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Pathways related to Biotinidase Deficiency according to KEGG:36
Pathways related to Biotinidase Deficiency according to GeneCards Suite gene sharing:(show all 19)
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Cellular components related to Biotinidase Deficiency according to GeneCards Suite gene sharing:
Biological processes related to Biotinidase Deficiency according to GeneCards Suite gene sharing:
Molecular functions related to Biotinidase Deficiency according to GeneCards Suite gene sharing:
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