Neonatal screening for biotinidase deficiency

D. T. Forman, D. D. Bankson, W Edward Jr. Highsmith

Research output: Contribution to journalArticle

9 Citations (Scopus)

Abstract

Children with juvenile-onset multiple carboxylase deficiency lack biotinidase activity (biotinamide amidohydrolase, EC 3.5.1.12) in the liver and other tissues. Hence, little free biotin is metabolically available, resulting in seizures, acidosis, and serious neurological damage. As the absence of hepatic biotinidase activity is reflected in serum, assessment of biotinidase status can easily be made from a blood sample. A convenient qualitative procedure for screening infants has been employed in order to estimate serum levels of biotinidase in as little as 10 μl of sample. This colorimetric procedure detects the formation of free p-aminobenzoate cleaved from the substrate, N-biotinyl-p-aminobenzoate at pH 6.0. The assay is easily performed and has a low incidence of false positive results. A kinetic assay for serum biotinidase has also been developed using biotinyl-p-nitroanilide (BpNA) as substrate. When 50 μl of biotinidase positive serum was incubated with 0.2 mM BpNA in phosphate buffer at pH 6.0, an increase in absorbance was observed at 405 nm. The rate of change in absorbance was followed kinetically on the Roche Cobas BIO analyzer at 37°C. Monitoring the increase in absorbance of para-nitroanilide every 60 seconds over 30 minutes demonstrated linearity from 10 to 30 minutes. In comparing results from this kinetic assay on 48 randomly selected sera with those obtained using a colorimetric procedure, a correlation coefficient of 0.85 was obtained. Several false positive results were observed in clearly lipemic sera.

Original languageEnglish (US)
Pages (from-to)144-154
Number of pages11
JournalAnnals of Clinical and Laboratory Science
Volume22
Issue number3
StatePublished - 1992
Externally publishedYes

Fingerprint

Biotinidase
Biotinidase Deficiency
Neonatal Screening
Screening
para-Aminobenzoates
Serum
Assays
Amidohydrolases
Kinetics
Substrates
Biotin
Liver
Acidosis
Buffers
Blood
Phosphates
Tissue
Seizures
Monitoring

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)
  • Clinical Biochemistry

Cite this

Forman, D. T., Bankson, D. D., & Highsmith, W. E. J. (1992). Neonatal screening for biotinidase deficiency. Annals of Clinical and Laboratory Science, 22(3), 144-154.

Neonatal screening for biotinidase deficiency. / Forman, D. T.; Bankson, D. D.; Highsmith, W Edward Jr.

In: Annals of Clinical and Laboratory Science, Vol. 22, No. 3, 1992, p. 144-154.

Research output: Contribution to journalArticle

Forman, DT, Bankson, DD & Highsmith, WEJ 1992, 'Neonatal screening for biotinidase deficiency', Annals of Clinical and Laboratory Science, vol. 22, no. 3, pp. 144-154.
Forman DT, Bankson DD, Highsmith WEJ. Neonatal screening for biotinidase deficiency. Annals of Clinical and Laboratory Science. 1992;22(3):144-154.
Forman, D. T. ; Bankson, D. D. ; Highsmith, W Edward Jr. / Neonatal screening for biotinidase deficiency. In: Annals of Clinical and Laboratory Science. 1992 ; Vol. 22, No. 3. pp. 144-154.
@article{05d9d2f12c844eb89058c68e7215fb4c,
title = "Neonatal screening for biotinidase deficiency",
abstract = "Children with juvenile-onset multiple carboxylase deficiency lack biotinidase activity (biotinamide amidohydrolase, EC 3.5.1.12) in the liver and other tissues. Hence, little free biotin is metabolically available, resulting in seizures, acidosis, and serious neurological damage. As the absence of hepatic biotinidase activity is reflected in serum, assessment of biotinidase status can easily be made from a blood sample. A convenient qualitative procedure for screening infants has been employed in order to estimate serum levels of biotinidase in as little as 10 μl of sample. This colorimetric procedure detects the formation of free p-aminobenzoate cleaved from the substrate, N-biotinyl-p-aminobenzoate at pH 6.0. The assay is easily performed and has a low incidence of false positive results. A kinetic assay for serum biotinidase has also been developed using biotinyl-p-nitroanilide (BpNA) as substrate. When 50 μl of biotinidase positive serum was incubated with 0.2 mM BpNA in phosphate buffer at pH 6.0, an increase in absorbance was observed at 405 nm. The rate of change in absorbance was followed kinetically on the Roche Cobas BIO analyzer at 37°C. Monitoring the increase in absorbance of para-nitroanilide every 60 seconds over 30 minutes demonstrated linearity from 10 to 30 minutes. In comparing results from this kinetic assay on 48 randomly selected sera with those obtained using a colorimetric procedure, a correlation coefficient of 0.85 was obtained. Several false positive results were observed in clearly lipemic sera.",
author = "Forman, {D. T.} and Bankson, {D. D.} and Highsmith, {W Edward Jr.}",
year = "1992",
language = "English (US)",
volume = "22",
pages = "144--154",
journal = "Annals of Clinical and Laboratory Science",
issn = "0091-7370",
publisher = "Association of Clinical Scientists",
number = "3",

}

TY - JOUR

T1 - Neonatal screening for biotinidase deficiency

AU - Forman, D. T.

AU - Bankson, D. D.

AU - Highsmith, W Edward Jr.

PY - 1992

Y1 - 1992

N2 - Children with juvenile-onset multiple carboxylase deficiency lack biotinidase activity (biotinamide amidohydrolase, EC 3.5.1.12) in the liver and other tissues. Hence, little free biotin is metabolically available, resulting in seizures, acidosis, and serious neurological damage. As the absence of hepatic biotinidase activity is reflected in serum, assessment of biotinidase status can easily be made from a blood sample. A convenient qualitative procedure for screening infants has been employed in order to estimate serum levels of biotinidase in as little as 10 μl of sample. This colorimetric procedure detects the formation of free p-aminobenzoate cleaved from the substrate, N-biotinyl-p-aminobenzoate at pH 6.0. The assay is easily performed and has a low incidence of false positive results. A kinetic assay for serum biotinidase has also been developed using biotinyl-p-nitroanilide (BpNA) as substrate. When 50 μl of biotinidase positive serum was incubated with 0.2 mM BpNA in phosphate buffer at pH 6.0, an increase in absorbance was observed at 405 nm. The rate of change in absorbance was followed kinetically on the Roche Cobas BIO analyzer at 37°C. Monitoring the increase in absorbance of para-nitroanilide every 60 seconds over 30 minutes demonstrated linearity from 10 to 30 minutes. In comparing results from this kinetic assay on 48 randomly selected sera with those obtained using a colorimetric procedure, a correlation coefficient of 0.85 was obtained. Several false positive results were observed in clearly lipemic sera.

AB - Children with juvenile-onset multiple carboxylase deficiency lack biotinidase activity (biotinamide amidohydrolase, EC 3.5.1.12) in the liver and other tissues. Hence, little free biotin is metabolically available, resulting in seizures, acidosis, and serious neurological damage. As the absence of hepatic biotinidase activity is reflected in serum, assessment of biotinidase status can easily be made from a blood sample. A convenient qualitative procedure for screening infants has been employed in order to estimate serum levels of biotinidase in as little as 10 μl of sample. This colorimetric procedure detects the formation of free p-aminobenzoate cleaved from the substrate, N-biotinyl-p-aminobenzoate at pH 6.0. The assay is easily performed and has a low incidence of false positive results. A kinetic assay for serum biotinidase has also been developed using biotinyl-p-nitroanilide (BpNA) as substrate. When 50 μl of biotinidase positive serum was incubated with 0.2 mM BpNA in phosphate buffer at pH 6.0, an increase in absorbance was observed at 405 nm. The rate of change in absorbance was followed kinetically on the Roche Cobas BIO analyzer at 37°C. Monitoring the increase in absorbance of para-nitroanilide every 60 seconds over 30 minutes demonstrated linearity from 10 to 30 minutes. In comparing results from this kinetic assay on 48 randomly selected sera with those obtained using a colorimetric procedure, a correlation coefficient of 0.85 was obtained. Several false positive results were observed in clearly lipemic sera.

UR - http://www.scopus.com/inward/record.url?scp=0026555939&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0026555939&partnerID=8YFLogxK

M3 - Article

VL - 22

SP - 144

EP - 154

JO - Annals of Clinical and Laboratory Science

JF - Annals of Clinical and Laboratory Science

SN - 0091-7370

IS - 3

ER -