Holocarboxylase synthetase deficiency

Preferred Label : Holocarboxylase synthetase deficiency;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Multiple carboxylase deficiency, early onset; Multiple carboxylase deficiency, neonatal form; Hlcs deficiency;

Description : Early-onset multiple carboxylase deficiency, or holocarboxylase deficiency, is an autosomal recessive disorder of biotin metabolism. See also late-onset or juvenile MCD (253260) caused by mutation in the biotinidase gene (BTD; 609019). 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. Care must be taken to differentiate the inherited multiple carboxylase deficiencies from acquired biotin deficiencies, such as those that develop after excessive dietary intake of avidin, an egg-white glycoprotein that binds specifically and essentially irreversibly to biotin (Sweetman et al., 1981) or prolonged parenteral alimentation without supplemental biotin (Mock et al., 1981).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutations in the holocarbyoxylase synthetase gene (HLCS, 253270.0001);

Laboratory abnormalities : Organic aciduria (elevated beta-hydroxyisovalerate, beta-methylcrotonylglycine, beta-hydroxypropionate, methylcitrate, lactate, tiglylglycine); Mild-moderate hyperammonemia; Holocarboxylase synthetase deficiency; Normal serum biotin concentration;

Prefixed ID : #253270;

Details

Origin ID

253270;

UMLS CUI

C0268581;

Broader ORDO disease(s)
- Multiple carboxylase deficiency [ORDO Disease]
CISMeF manual mappings
- Multiple carboxylase deficiency due to holocarboxylase synthetase deficiency [ICD-11 More detail]
Currated CISMeF NLP mapping
- Holocarboxylase Synthetase Deficiency [NCIt concept]
- Holocarboxylase synthase deficiency (disorder) [SNOMED CT concept]
- Holocarboxylase synthetase deficiency [ORDO Disease]
- holocarboxylase synthetase deficiency [Disease (Nov.)]
- holocarboxylase synthetase deficiency [DO Concept]
- holocarboxylase synthetase deficiency [MeSH Descriptor]
- holocarboxylase synthetase deficiency [MeSH concept]
- multiple carboxylase deficiency [MeSH Descriptor]
DO Cross reference
- holocarboxylase synthetase deficiency [DO Concept]
Genes related to phenotype
- Holocarboxylase synthetase [OMIM gene]
HPO term(s)
- Alopecia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Coma [HPO term]
- Feeding difficulties [HPO term]
- Feeding difficulties in infancy [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hyperammonemia [HPO term]
- Hypertonia [HPO term]
- Hyperventilation [HPO term]
- Hypotonia [HPO term]
- Irritability [HPO term]
- Lethargy [HPO term]
- Metabolic acidosis [HPO term]
- Mild-moderate hyperammonemia [HPO term]
- Organic aciduria [HPO term]
- Seizure [HPO term]
- Skin rash [HPO term]
- Tachypnea [HPO term]
- Thrombocytopenia [HPO term]
- Vomiting [HPO term]
ORDO concept(s)
- Holocarboxylase synthetase deficiency [ORDO Disease]
See also inter- (CISMeF)
- multiple carboxylase deficiency [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Biotin-(propionyl-coenzyme A-carboxylase) ligase deficiency (disorder) [Inactive SNOMED CT concept]
- Holocarboxylase Synthetase Deficiency [NCIt concept]
- Holocarboxylase synthase deficiency (disorder) [SNOMED CT concept]
- Holocarboxylase synthetase deficiency [ORDO Disease]
- Multiple carboxylase deficiency due to holocarboxylase synthetase deficiency [ICD-11 More detail]
- Neonatal Holocarboxylase Synthetase Deficiency [NCIt concept]
- biotin-(propionyl-coa-carboxylase) ligase deficiency [SNOMED Notion]
- holocarboxylase synthetase deficiency [MeSH Descriptor]
- holocarboxylase synthetase deficiency [MeSH concept]
- holocarboxylase synthetase deficiency [DO Concept]
- holocarboxylase synthetase deficiency [Disease (Nov.)]
Validated automatic mappings to BTNT
- Biotin-(propionyl-coenzyme A-carboxylase) ligase deficiency (disorder) [Inactive SNOMED CT concept]
- Neonatal Holocarboxylase Synthetase Deficiency [NCIt concept]
Validated automatic mappings to NTBT
- Multiple carboxylase deficiency (disorder) [SNOMED CT concept]

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