title: [Biotinidase deficiency: a congenital metabolic disease which can be successfully treatment with vitamin H].
abstract: At the age of 13 months a patient developed muscular hypotonia, deafness of the inner ear and cutaneous symptoms (alopecia; skin rash, complicated by superinfection with monilia). Biochemical assays revealed compensated metabolic acidosis, pathologically high lactate and pyruvate concentrations in the blood and cerebro-spinal fluid, as well as increased urinary excretion of 3-OH-isovaleric acid, 3-methylcrotonylglycine and lactate. The patient was diagnosed as suffering from autosomal recessive biotinidase deficiency on the basis of severely reduced biotinidase activity in plasma (0.05 nmol/min/ml). In both his parents and brother heterozygosity was found. Institution of therapy with a daily dose of 10 mg biotin rapidly removed most of the symptoms; after six months of treatment the deafness had improved significantly.
authors.affiliation: Abteilung Allgemeine Pädiatrie, Universitäts-Kinderklinik Tübingen.
authors.forename: J
authors.initials: J
authors.lastname: Nothjunge
authors.forename: I
authors.initials: I
authors.lastname: Krägeloh-Mann
authors.forename: T M
authors.initials: TM
authors.lastname: Suormala
authors.forename: E R
authors.initials: ER
authors.lastname: Baumgartner
mesh_terms: D000136:Acid-Base Equilibrium / Q000187:drug effects; D000284:Administration, Oral; D000581:Amidohydrolases / Q000172:deficiency*; D001710:Biotin / Q000008:administration & dosage*; D043523:Biotinidase; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D007773:Lactates / Q000097:blood; D019344:Lactic Acid; D008297:Male; D009100:Multiple Carboxylase Deficiency / Q000201:enzymology / Q000628:therapy*; D011773:Pyruvates / Q000097:blood; D019289:Pyruvic Acid
chemical_list: D007773:Lactates; D011773:Pyruvates; D019344:Lactic Acid; D001710:Biotin; D019289:Pyruvic Acid; D000581:Amidohydrolases; D043523:Biotinidase
vernacular_title: Biotinidasemangel: eine angeborene Stoffwechselerkrankung, die mit Vitamin H erfolgreich behandelt werden kann.