Cerebral metabolic change after treatment in biotinidase deficiency.

Abstract:

:A 13.5-year-old boy with biotinidase deficiency was studied 8 days before and 5 months after biotin treatment by positron emission tomography (PET) and computerized electroencephalographic topography (CET). With biotin treatment there was a marked improvement in the presenting symptom of loss of visual acuity and a more modest recovery in spastic quadraparesis. By PET scanning, the relative metabolic rate for glucose was more than 2 standard deviations lower in the temporal and occipital cortices than in adult or age-matched controls. With biotin treatment, these values rose to normal limits for both control groups. By CET, normalized EEG equivalent to the relative glucose metabolic rate showed asymmetric slowing in the left temporal and frontal regions before treatment, whereas none of the 32 leads exceeded normal limits of delta, theta, alpha or beta after treatment. These results suggest a strong correlation between clinical, metabolic and electrical measures of brain function as related to biotin treatment in biotinidase deficiency.

journal_name

J Inherit Metab Dis

authors

Lott IT,Lottenberg S,Nyhan WL,Buchsbaum MJ

doi

10.1007/BF00710288

subject

Has Abstract

pub_date

1993-01-01 00:00:00

pages

399-407

issue

2

eissn

0141-8955

issn

1573-2665

journal_volume

16

pub_type

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