Low biotinidase activities in the sera of patients with impaired liver function: Evidence that the liver is the source of serum biotinidase

Grier, Robert E.; Heard, Gregory S.; Watkins, Paul B.; Wolf, Barry

doi:10.1016/0009-8981(90)90326-n

Cited by 30 publications

(27 citation statements)

References 9 publications

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“…The recovering of normal enzyme activity in a post-liver transplantation patient supports the data that the liver plays a central role in the BTD activity expression (Grier et al 1990;Pabuçcuoğlu et al 2002).…”

Section: Concerning Enzymatic and Genetic Findingssupporting

confidence: 71%

Evaluation of the biotinidase activity in hepatic glycogen storage disease patients. Undescribed genetic finding associated with atypical enzymatic behavior: an outlook

Angaroni

Giner-Ayala

Hill

et al. 2010

J of Inher Metab Disea

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Repeated evaluation of biotinidase (BTD) activity was carried out for a long-term follow-up in patients with hepatic glycogen storage diseases (GSDs). The results indicated inter-intra variability among the GSD-Ia, GSD-III and GSD-IX patients. In addition, a c.1330G>C transversion in the BTD gene, resulting in a p.Asp444His substitution was detected in one allele of a GSD-Ia patient with sustained normal enzyme activity. Thus far, it is necessary to be cautious in the interpretation of the results of BTD activity as a presumptive GSD diagnostic element. It is not known why plasma BTD activity increases in GSDs patients, or the clinical importance of the increment. When viewed from a global perspective, there are some lines of biotin biology that could indicate a relationship between BTD´s behavior and GSDs.

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Section: Concerning Enzymatic and Genetic Findingssupporting

confidence: 71%

Evaluation of the biotinidase activity in hepatic glycogen storage disease patients. Undescribed genetic finding associated with atypical enzymatic behavior: an outlook

Angaroni

Giner-Ayala

Hill

et al. 2010

J of Inher Metab Disea

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“…It was concluded that the liver was the likely source of serum biotinidase. Furthermore, the serum biotinidase activities in patients with chronic hepatic diseases were detected below the lower limit of activity found in healthy adults [16][17][18]. Thus, it could be suggested that isotretinoin impairs the liver function [8], resulting in low biotinidase activity as it was previously reported [19].…”

Section: Discussionmentioning

confidence: 75%

The Effect of Isotretinoin on Biotinidase Activity

Schulpis

Georgala

Papakonstantinou

et al. 1999

Skin Pharmacol Physiol

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Background: Among the reaction and effects of isotretinoin, mucocutaneous reactions, xerosis and erythema of the skin as well as elevation of liver enzymes and lipids except high density lipoprotein have been reported. Objective: Since biotinidase is mainly produced in the liver and partial biotinidase deficiency causes dermatological manifestations, seborrheic dermatitis, alopecia etc., isotretinoin side effects in relation to biotinidase activity were studied. Methods: Forty-two (n = 42) patients with severe cystic acne had liver function tests, lipid estimations, serum biotin as well as biotinidase activity evaluations before (value 1) and on the 30th day (value 2) of treatment with isotretinoin monotherapy (Roaccutane 0.5 mg/kg/24 h). The same laboratory tests were evaluated in 50 controls only once. Moreover, the effect of isotretinoin on a known plasma biotinidase activity was evaluated after incubation in vitro with various concentrations of the drug. Results: A statistically significant elevation of liver enzymes and lipids, except high density lipoprotein, was observed at the end of this study. On the contrary, biotinidase activity was found to be significantly decreased as compared to the initial values (value 1 = 4.70 ± 0.89 nmol/min/l, value 2 = 2.50 ± 0.8 nmol/min/l, p < 0.001) and to controls (5.2 ± 0.9 nmol/min/l vs. value 2 = 2.50 ± 0.8 nmol/min/l, p < 0.001). Additionally, biotin levels showed no significant alterations and the in vitro incubation of the enzyme with various concentrations of the drug exhibited no effect on its activity. Conclusion: It is suggested that isotretinoin isomers-metabolites act in the liver, resulting in low biotinidase activity.

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“…Decreased enzymatic activity can also be due to prematurity or liver dysfunction, although, if all preanalytical variables are properly controlled, this typically does not lead to misdiagnosis of biotinidase deficiency. 89,90 Biotinidase activity in newborns usually increases over the first days to weeks of life, and those with activities 50-70% of mean normal activity do not usually require retesting at a later date. The most common cause of decreased enzymatic activity is sample mishandling.…”

Section: Test Interpretation and Reporting Interpretationmentioning

confidence: 99%

Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics

Strovel

Cowan

Scott

et al. 2017

Genetics in Medicine

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Biotinidase deficiency is an autosomal recessively inherited disorder of biotin recycling that is associated with neurologic and cutaneous consequences if untreated. Fortunately, the clinical features of the disorder can be ameliorated or prevented by administering pharmacological doses of the vitamin biotin. Newborn screening and confirmatory diagnosis of biotinidase deficiency encompasses both enzymatic and molecular testing approaches. These guidelines were developed to define and standardize laboratory procedures for enzymatic biotinidase testing, to delineate situations for which follow-up molecular testing is warranted, and to characterize variables that can influence test performance and interpretation of results.

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Low biotinidase activities in the sera of patients with impaired liver function: Evidence that the liver is the source of serum biotinidase

Cited by 30 publications

References 9 publications

Evaluation of the biotinidase activity in hepatic glycogen storage disease patients. Undescribed genetic finding associated with atypical enzymatic behavior: an outlook

Evaluation of the biotinidase activity in hepatic glycogen storage disease patients. Undescribed genetic finding associated with atypical enzymatic behavior: an outlook

The Effect of Isotretinoin on Biotinidase Activity

Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics

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