Phenotypic variation in biotinidase deficiency

Biotinidase deficiency is the usual biochemical defect in biotin-responsive late-onset multiple carboxylase deficiency. We reviewed the clinical features of six patients with the enzyme deficiency and compared them with features described in the literature in children with late-onset MCD. In all of...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:The Journal of pediatrics 1983-08, Vol.103 (2), p.233-237
Hauptverfasser: Wolf, Barry, Grier, Robert E., Allen, Richard J., Goodman, Stephen I., Kien, Craig L., Parker, W. Davis, Howell, David M., Hurst, Daniel L.
Format: Artikel
Sprache:eng
Schlagworte:
Online-Zugang:Volltext
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
Beschreibung
Zusammenfassung:Biotinidase deficiency is the usual biochemical defect in biotin-responsive late-onset multiple carboxylase deficiency. We reviewed the clinical features of six patients with the enzyme deficiency and compared them with features described in the literature in children with late-onset MCD. In all of the reported probands, MCD was diagnosed because they had metabolic ketoacidosis and organic aciduria in addition to various neurologic and cutaneous symptoms, such as seizures, ataxia, skin rash, and alopecia. Although in several of our patients biotinidase deficiency was also diagnosed because they manifested a similar spectrum of findings, others never had ketoacidosis or organic aciduria. Thus the initial features of biotinidase deficiency usually include neurologic or cutaneous symptoms, whereas organic aciduria and MCD are delayed, secondary manifestations of the disease. These findings suggest that biotinidase deficiency should be considered in any infant or child with any of these neurologic or cutaneous findings, with or without ketoacidosis or organic aciduria. If the diagnosis cannot be excluded, such individuals should be given a therapeutic trial of pharmacologic doses of biotin.
ISSN:0022-3476
1097-6833
DOI:10.1016/S0022-3476(83)80351-5