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

scholarly journals Biotinidase deficiency: the enzymatic defect in late-onset multiple carboxylase deficiency

1983 ◽  
Vol 131 (3) ◽  
pp. 273-281 ◽  
Author(s):  
Barry Wolf ◽  
Robert E. Grier ◽  
Richard J. Allen ◽  
Stephen I. Goodman ◽  
Craig L. Kien
Keyword(s):  
Late Onset ◽  
Biotinidase Deficiency ◽  
Multiple Carboxylase Deficiency ◽  
Enzymatic Defect

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

scholarly journals Partial Biotinidase Deficiency Revealed Imbalances in Acylcarnitines Profile at Tandem Mass Spectrometry Newborn Screening

2021 ◽  
Vol 18 (4) ◽  
pp. 1659
Author(s):  
Ilaria Cicalini ◽  
Damiana Pieragostino ◽  
Cristiano Rizzo ◽  
Sara Verrocchio ◽  
Daniela Semeraro ◽  
...  
Keyword(s):  
Mass Spectrometry ◽  
Tandem Mass Spectrometry ◽  
Newborn Screening ◽  
Metabolic Profile ◽  
Late Onset ◽  
Normal Activity ◽  
Molecular Testing ◽  
Tandem Mass ◽  
Multiple Carboxylase Deficiency ◽  
First Time

Biotinidase (BTD) deficiency is an autosomal recessive inherited neurocutaneous disorder. BTD recycles the vitamin biotin, a coenzyme essential for the function of four biotin-dependent carboxylases, including propionyl-CoA carboxylase, 3-methylcrotonyl-CoA carboxylase, pyruvate carboxylase, and acetyl-CoA carboxylase. Due to deficient activities of the carboxylases, BTD deficiency is also recognized as late-onset multiple carboxylase deficiency and is associated with secondary alterations in the metabolism of amino acids, carbohydrates, and fatty acids. BTD deficiency can be classified as “profound”, with less than 10% of mean normal activity, and as “partial” with 10–30% of mean normal activity. Newborn screening (NBS) of BTD deficiency is performed in most countries and is able to detect both variants. Moreover, mild metabolic alterations related to carboxylase deficiency in profound BTD deficiency could result and possibly be revealed in the metabolic profile by tandem mass spectrometry (MS/MS) NBS. Here, we report the case of a newborn female infant with an initial suspected BTD deficiency at the NBS test, finally confirmed as a partial variant by molecular testing. Although BTD deficiency was partial, interestingly her metabolic profile at birth and during the follow-up tests revealed, for the first time, alterations in specific acylcarnitines as a possible result of the deficient activity of biotin-dependent carboxylases.

Late-Onset Multiple Carboxylase Deficiency

2009 ◽  
pp. 1143-1143
Author(s):  
Alexander K. C. Leung ◽  
William Lane M. Robson ◽  
Carsten Büning ◽  
Johann Ockenga ◽  
Janine Büttner ◽  
...  
Keyword(s):  
Late Onset ◽  
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 Impaired Biotinidase Activity Disrupts Holocarboxylase Synthetase Expression in Late Onset Multiple Carboxylase Deficiency

2008 ◽  
Vol 283 (49) ◽  
pp. 34150-34158 ◽  
Author(s):  
Anylu Pérez-Monjaras ◽  
Rafael Cervantes-Roldán ◽  
Iván Meneses-Morales ◽  
Roy A. Gravel ◽  
Sandra Reyes-Carmona ◽  
...  
Keyword(s):  
Late Onset ◽  
Holocarboxylase Synthetase ◽  
Multiple Carboxylase Deficiency ◽  
Biotinidase Activity

scholarly journals A rare case of type i glutaric aciduria in an early child

2020 ◽  
Vol 11 (4) ◽  
pp. 84-91
Author(s):  
A. A. Lebedenko ◽  
S. B. Berezhanskay ◽  
A. S. Todorova ◽  
N. N. Vostrykh ◽  
E. Y. Kaushanskay ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Late Onset ◽  
Clinical Manifestations ◽  
Glutaric Aciduria Type ◽  
Organic Aciduria ◽  
Type I ◽  
Gene Encoding ◽  
Glutaric Aciduria ◽  
Phenotypic Spectrum ◽  
Rare Autosomal Recessive Disease

Glutaric aciduria type I (deficiency of glutaryl-COA dehydrogenase, glutaric acidemia type I) is a rare autosomal recessive disease caused by mutations in the gene encoding the enzyme glutaryl – COA - dehydrogenase (GCDH). Cerebral organic aciduria, caused by a deficiency of glutaryl-COA - dehydrogenase, is generally considered a neurological disorder.The phenotypic spectrum of untreated GA-1 varies from a more common and pronounced form (a disease with infancy) to a low-symptom and less common form. In people with the same genotype, the clinical manifestations and depth of CNS damage can vary widely depending on the age of manifestation of acute encephalopathic crises. It is assumed that with early detection and treatment of “asymptomatic” newborns (in the context of screening for this disease), most people who would have developed manifestations of GA-1 with childhood or late onset will remain asymptomatic. 

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