Biotinidase deficiency

Preferred Label : Biotinidase deficiency;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Multiple carboxylase deficiency, late-onset; Multiple carboxylase deficiency, juvenile-onset; Btd deficiency;

Description : 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 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.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the biotinidase gene (BTD, 253260.0001);

Laboratory abnormalities : Organic aciduria (elevated beta-hydroxyisovalerate, lactate, beta-methylcrotonylglycine, beta-hydroxypropionate, methylcitrate); Mild hyperammonemia; Biotinidase deficiency;

Prefixed ID : #253260;

Détails

Origin ID

253260;

UMLS CUI

C0220754;

Automatic exact mappings (from CISMeF team)
- multiple carboxylase deficiency [MeSH Descriptor]
- multiple carboxylase deficiency, Juvenile-Onset [MeSH concept]
- multiple carboxylase deficiency, Juvenile-Onset [MeSH Supplementary Concept]
Broader ORDO disease(s)
- Multiple carboxylase deficiency [ORDO Disease]
Currated CISMeF NLP mapping
- Biotinidase Deficiency [NCIt concept]
- Biotinidase deficiency [LOINC component]
- Biotinidase deficiency [ORDO Disease]
- Biotinidase deficiency [MedDRA Preferred Term]
- Biotinidase deficiency (disorder) [SNOMED CT concept]
- Multiple carboxylase deficiency due to biotinidase deficiency [ICD-11 More detail]
- biotin deficiency [MeSH Supplementary Concept]
- biotinidase deficiency [Disease (Nov.)]
- biotinidase deficiency [DO Concept]
- biotinidase deficiency [SNOMED Notion]
- biotinidase deficiency [MeSH concept]
- biotinidase deficiency [MeSH Descriptor]
DO Cross reference
- biotinidase deficiency [DO Concept]
Genes related to phenotype
- Biotinidase [OMIM gene]
HPO term(s)
- Alopecia [HPO term]
- Apnea [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Conjunctivitis [HPO term]
- Decreased biotinidase level [HPO term]
- Diarrhea [HPO term]
- Diffuse cerebellar atrophy [HPO term]
- Diffuse cerebral atrophy [HPO term]
- Feeding difficulties [HPO term]
- Feeding difficulties in infancy [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hepatomegaly [HPO term]
- Hyperammonemia [HPO term]
- Hypotonia [HPO term]
- Lethargy [HPO term]
- Metabolic ketoacidosis [HPO term]
- Mild hyperammonemia [HPO term]
- Optic atrophy [HPO term]
- Organic aciduria [HPO term]
- Recurrent skin infections [HPO term]
- Seborrheic dermatitis [HPO term]
- Seizure [HPO term]
- Sensorineural hearing impairment [HPO term]
- Skin rash [HPO term]
- Splenomegaly [HPO term]
- Tachypnea [HPO term]
- Visual loss [HPO term]
- Vomiting [HPO term]
ORDO concept(s)
- Biotinidase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Biotinidase Deficiency [NCIt concept]
- Biotinidase deficiency [LOINC component]
- Biotinidase deficiency [MedDRA Preferred Term]
- Biotinidase deficiency [ORDO Disease]
- Biotinidase deficiency (disorder) [SNOMED CT concept]
- Multiple carboxylase deficiency due to biotinidase deficiency [ICD-11 More detail]
- biotinidase deficiency [SNOMED Notion]
- biotinidase deficiency [MeSH Descriptor]
- biotinidase deficiency [MeSH concept]
- biotinidase deficiency [DO Concept]
- biotinidase deficiency [Disease (Nov.)]

Position du mot-clé dans l'(les) arborescence(s) :

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