" /> Biotinidase deficiency - CISMeF





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


Vous pouvez consulter :


Nous contacter.
27/07/2025


[Accueil] [Haut de page]

© CHU de Rouen. Toute utilisation partielle ou totale de ce document doit mentionner la source.