| Five patients with a biotin-responsive defect in holocarboxylase formation: evaluation of responsiveness to biotin therapy in vivo and comparative biochemical studies in vitro. | |
| | |
MedLine Citation:
|
PMID: 9128289 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
Biochemical studies in five patients with a defect in biotin-responsive holocarboxylase synthesis are reported. The age of onset (2 d to 6 y) as well as the severity of illness varied considerably. In all patients diagnosis was established by the finding of organic aciduria typical for multiple carboxylase deficiency in a catabolic state. In four patients the response to biotin therapy was evaluated by measurement of mitochondrial carboxylase activities in lymphocytes and by monitoring urinary organic acid excretion. In three patients clinical symptoms disappeared with 10-20 mg biotin/d, whereas normalization of the biochemical parameters required higher doses (20-40 mg/d). The fourth patient required a dose of 100 mg biotin/d before her skin rash disappeared. She remains mentally retarded and shows slightly elevated urinary organic acid excretion. Carboxylase activities were clearly deficient in fibroblasts grown in the commonly used medium which contains 10 nmol/L biotin (contributed by FCS in medium) in two patients. Fibroblasts of the other three patients became deficient only in a low biotin medium (0.1 nmol/L). Reactivation of deficient carboxylase activities in relation to time and biotin concentration correlated well with the severity and age of onset of illness in four patients. In one patient, however, carboxylase reactivation followed a more complex pattern requiring the longest incubation time but only a moderately increased biotin concentration of 19 nmol/L compared with 3-5 nmol/L in normal cells and 34-4000 nmol/L in the other four patients. The results in the five patients are in accordance with a primary defect of holocarboxylase synthetase due to a decreased affinity for biotin, in one patient combined with a decreased Vmax. |
| | |
Authors:
|
T Suormala; B Fowler; M Duran; A Burtscher; A Fuchshuber; R Tratzmüller; M J Lenze; K Raab; B Baur; H Wick; R Baumgartner |
Related Documents
:
|
1519229 - Pharmacology of r-hirudin in renal impairment. 11856999 - Isoniazid acetylation phenotyping in the japanese: the molar metabolic ratio inh/acinh. 22871019 - Isolated central nervous system relapse of chronic myeloid leukemia after allogeneic he... 21975299 - Heart rate variability measures as biomarkers in patients with psychogenic nonepileptic... 15672789 - Effects of polymyxin b immobilized fiber on urinary n-acetyl-beta-glucosaminidase in pa... 2003139 - The link between fluid intake and weight gain in psychosis. 9283899 - Rare inherited coagulation disorders in india. 8492879 - Displacement of the egocentric visual midline in altitudinal postchiasmatic scotomata. 8474489 - Reflex blepharospasm associated with bilateral basal ganglia lesion. |
Publication Detail:
|
Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
|
Title: Pediatric research Volume: 41 ISSN: 0031-3998 ISO Abbreviation: Pediatr. Res. Publication Date: 1997 May |
Date Detail:
|
Created Date: 1997-06-26 Completed Date: 1997-06-26 Revised Date: 2006-11-15 |
Medline Journal Info:
|
Nlm Unique ID: 0100714 Medline TA: Pediatr Res Country: UNITED STATES |
Other Details:
|
Languages: eng Pagination: 666-73 Citation Subset: IM |
Affiliation:
|
Metabolic Unit, University Children's Hospital, Basel, Switzerland. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Acetyl-CoA Carboxylase
/
deficiency,
metabolism Adolescent Age of Onset Biotin / therapeutic use* Carbon-Carbon Ligases* Carbon-Nitrogen Ligases* Carboxy-Lyases / deficiency, metabolism Cells, Cultured Child Female Fibroblasts / enzymology Follow-Up Studies Humans Infant Infant, Newborn Ligases / deficiency*, metabolism Male Metabolism, Inborn Errors / drug therapy, enzymology* Methylmalonyl-CoA Decarboxylase Pyruvate Carboxylase / metabolism Pyruvate Carboxylase Deficiency Disease / enzymology |
| Chemical | |
Reg. No./Substance:
|
58-85-5/Biotin; EC 4.1.1.-/Carboxy-Lyases; EC 4.1.1.41/Methylmalonyl-CoA Decarboxylase; EC 6.-/Ligases; EC 6.3.-/Carbon-Nitrogen Ligases; EC 6.3.4.-/holocarboxylase synthetases; EC 6.4.-/Carbon-Carbon Ligases; EC 6.4.1.1/Pyruvate Carboxylase; EC 6.4.1.2/Acetyl-CoA Carboxylase; EC 6.4.1.4/methylcrotonoyl-CoA carboxylase |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Expression of hepatocyte growth factor/scatter factor and its receptor, MET, suggests roles in human...
Next Document: Maternofetal transfer of thyrotrophin-releasing hormone: effect of concentration and mode of adminis...