Partial biotinidase deficiency: Clinical and biochemical features

McVoy, Julie R. Secor; Levy, Harvey L.; Lawler, Michael G.; Schmidt, Michael A.; Ebers, Douglas D.; Hart, P. Suzanne; Pettit, Denise Dove; Blitzer, Miriam G.; Wolf, Barry

doi:10.1016/s0022-3476(05)81649-x

Cited by 79 publications

(13 citation statements)

References 9 publications

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“…The absence of such symptoms in our patients could be due to their acquired 'partial' biotinidase deficiency which was presented only with dermatological symptoms [13]. Additionally, the highest specific activity of biotinidase was found in liver and serum [10,11], kidney and adrenal glands, but relatively low in the brain [15,16]. Pispa [17] noted a 50% decrease in the biotinidase activity in liver, and a 30% decrease in serum activity of partially hepatectomized rats.…”

Section: Discussionmentioning

confidence: 84%

“…The enzyme permits free biotin to recycle and to be claimed from dietary proteins. Biocytin, the lysine Â-aminoamide of biotin, is thought to be the natural substrate of biotinidase and probably arises from the proteolysis of the biotin-dependent carboxylases, in all of which biotin is bound to the apocarboxylases via the Â-amino group of ·-lysine residue [11,12]. Profound biotinidase deficiency causes dermatological manifestations similar to biotin deficiency probably as a consequence of impaired intestinal absorption, cellular salvage and renal reclamation of biotin as well as neurological manifestations including seizures, hence little free biotin is metabolically available [12,13].…”

Section: Introductionmentioning

confidence: 99%

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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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Section: Discussionmentioning

confidence: 84%

Section: Introductionmentioning

confidence: 99%

The Effect of Isotretinoin on Biotinidase Activity

Schulpis

Georgala

Papakonstantinou

et al. 1999

Skin Pharmacol Physiol

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“…At 6 months of age, during an episode of gastroenteritis, he developed hypotonia, skin rash and hair loss. He was quickly treated with biotin and the symptoms resolved (Secor McVoy et al, 1990). This report indicates that children with partial biotinidase deficiency may be at risk of developing clinical features of biotinidase deficiency if they are stressed with an infection or periods of decreased nutrient intake.…”

Section: Discussionmentioning

confidence: 85%

Worldwide survey of neonatal screening for biotinidase deficiency

Wolf

1991

J of Inher Metab Disea

161

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Neonatal screening for biotinidase deficiency has been conducted in 14 countries since 1984. To 31 December 1990, 8,532,617 newborns were screened. One hundred and forty-two infants with biotinidase deficiency were identified; 76 infants with profound deficiency (less than 10% of mean normal serum activity) and 66 infants with partial deficiency (10-30% of mean normal activity). The estimated incidence of profound biotinidase deficiency is 1:112,271 (1:85,000 to 1:145,000; 95% confidence limits) and the incidence of partial deficiency is 1:129,282 (1:112,700 to 1:177,000). The incidence of combined profound and partial deficiency is 1:60,089 newborns (1:49,500 to 1:73,100). The estimated frequency of the allele for biotinidase deficiency is 0.004 and an estimated 1 in 123 individuals is heterozygous for the disorder.

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“…As was found in siblings with profound biotinidase deficiency, siblings with partial biotinidase deficiency had the same isoform pattern as the proband. One untreated child (MK) with an activity of 2.1 nmol/min/mL became symptomatic after metabolic compromise (5). Analysis of this patient's isoform pattern revealed that he was missing isoform 9, as was his older asymptomatic brother (activity of 1.9 nmol/min/mL).…”

Section: Characterization Of Biotinidase In Sera Frommentioning

confidence: 99%

“…Because all symptomatic children have had less than 10% mean normal activity, some parents of children with partial biotinidase deficiency have elected not to treat their children with biotin. One untreated patient, with approximately 30% of mean normal activity, developed a rash, hypotonia, and occipital hair loss at the age of 6 mo after an episode of gastroenteritis (5). Biotin therapy was immediately initiated and the symptoms resolved.…”

mentioning

confidence: 99%