Organic aciduria in neonatal multiple carboxylase deficiency

1982 ◽  
Vol 5 (1) ◽  
pp. 49-53 ◽  
Author(s):  
L. Sweetman ◽  
W. L. Nyhan ◽  
N. A. Sakati ◽  
A. Ohlsson ◽  
M. S. Mange ◽  
...  
Keyword(s):  
Organic Aciduria ◽  
Multiple Carboxylase Deficiency

Organic aciduria in late-onset biotin-responsive multiple carboxylase deficiency

1985 ◽  
Vol 8 (S2) ◽  
pp. 105-106 ◽  
Author(s):  
C. Erasmus ◽  
L. J. Mienie ◽  
C. J. Reinecke ◽  
S. K. Wadman
Keyword(s):  
Late Onset ◽  
Organic Aciduria ◽  
Multiple Carboxylase Deficiency

Multiple Carboxylase Deficiency: Clinical and Biochemical Improvement Following Neonatal Biotin Treatment

PEDIATRICS ◽  
1981 ◽  
Vol 68 (1) ◽  
pp. 113-118
Author(s):  
Barry Wolf ◽  
Y. Edward Hsia ◽  
Lawrence Sweetman ◽  
Gerald Feldman ◽  
Rodney B. Boychuk ◽  
...  
Keyword(s):  
Enzyme Activity ◽  
Coenzyme A ◽  
Organic Aciduria ◽  
Ventricular Dilation ◽  
Multiple Carboxylase Deficiency ◽  
Cultured Skin ◽  
Acid Metabolites ◽  
Prompt Diagnosis ◽  
Tomography Scan ◽  
Partial Correction

Multiple carboxylase deficiency is characterized by deficient activities of three biotin-dependent enzymes, propionyl coenzyme A carboxylase, pyruvate carboxylase, and β-methylcrotonyl coenzyme A carboxylase. A newborn infant was seen with metabolic ketoacidosis, hyperammonemia, organic aciduria, seizures, and coma. Multiple carboxylase deficiency was subsequently confirmed by enzyme activity determinations in his peripheral blood beukocytes and cultured skin fibroblasts. The infant's neurologic and metabolic status improved markedly within a few days of administration of pharmacologic doses of oral biotin. His EEG, which was distinctly abnormal, became normal; his extensive computed tomography scan changes resolved, with the exception of ventricular dilation, over the next two months. After two weeks of biotin treatment the excretion of abnormal organic acid metabolites was reduced and his carboxylase activities increased to the normal range. However, the activities of these enzymes increased only to 30% to 55% of normal in fibroblasts incubated in supplemental biotin. This partial correction of enzyme activity differs from that observed in other individuals with multiple carboxylase deficiency and suggests biochemical heterogeneity in this disorder. Prompt diagnosis and intervention can avert some of the pathologic complications of this biotin-responsive condition.

scholarly journals Prenatal Administration of Biotin in Biotin Responsive Multiple Carboxylase Deficiency

1982 ◽  
Vol 16 (2) ◽  
pp. 126-129 ◽  
Author(s):  
Karl S Roth ◽  
William Yang ◽  
Lorraine Allan ◽  
Mary Saunders ◽  
Roy A Gravel ◽  
...  
Keyword(s):  
Multiple Carboxylase Deficiency

scholarly journals Paradoxical Regulation of Biotin Utilization in Brain and Liver and Implications for Inherited Multiple Carboxylase Deficiency

2004 ◽  
Vol 279 (50) ◽  
pp. 52312-52318 ◽  
Author(s):  
Diana Pacheco-Alvarez ◽  
R. Sergio Solórzano-Vargas ◽  
Roy A. Gravel ◽  
Rafael Cervantes-Roldán ◽  
Antonio Velázquez ◽  
...  
Keyword(s):  
High Dose ◽  
Mrna Levels ◽  
Holocarboxylase Synthetase ◽  
Biotin Deficiency ◽  
Multiple Carboxylase Deficiency ◽  
Regulatory Impact ◽  
Normal Metabolism ◽  
Liver And Kidney ◽  
Essential Function ◽  
The Brain

Holocarboxylase synthetase (HCS) catalyzes the biotinylation of five carboxylases in human cells, and mutations of HCS cause multiple carboxylase deficiency (MCD). Although HCS also participates in the regulation of its own mRNA levels, the relevance of this mechanism to normal metabolism or to the MCD phenotype is not known. In this study, we show that mRNA levels of enzymes involved in biotin utilization, including HCS, are down-regulated during biotin deficiency in liver while remaining constitutively expressed in brain. We propose that this mechanism of regulation is aimed at sparing the essential function of biotin in the brain at the expense of organs such as liver and kidney during biotin deprivation. In MCD, it is possible that some of the manifestations of the disease may be associated with down-regulation of biotin utilization in liver because of the impaired activity of HCS and that high dose biotin therapy may in part be important to overcoming the adverse regulatory impact in such organs.

63. Organic Aciduria Accompanying Imerslundʼs Syndrome (Congenital Malabsorption of Vitamin B12)

1969 ◽  
Vol 62 (12) ◽  
pp. 1556
Author(s):  
Joseph G. Hollowell ◽  
James C. McPherson ◽  
Dorothy A. Hahn
Keyword(s):  
Vitamin B12 ◽  
Organic Aciduria

Biotin-responsive multiple carboxylase deficiency of infantile onset

1981 ◽  
Vol 99 (3) ◽  
pp. 421-423 ◽  
Author(s):  
S. Packman ◽  
L. Sweetman ◽  
M. Yoshino ◽  
H. Baker ◽  
M. Cowan
Keyword(s):  
Multiple Carboxylase Deficiency
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