A BIOTINIDASE KM VARIANT CAUSING LATE ONSET BILATERAL OPTIC NEUROPATHY

被引:38
作者
RAMAEKERS, VT
SUORMALA, TM
BRAB, M
DURAN, R
HEIMANN, G
BAUMGARTNER, ER
机构
[1] RHEIN WESTFAL TH AACHEN,DEPT PAEDIAT & OPTHALMOL,W-5100 AACHEN,GERMANY
[2] UNIV BASEL,CHILDRENS HOSP,METABOL UNIT,BASEL,SWITZERLAND
[3] UNIV UTRECHT,CHILDRENS HOSP,METABOL UNIT,UTRECHT,NETHERLANDS
关键词
D O I
10.1136/adc.67.1.115
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
A patient with a newly recognised variant of biotinidase deficiency presented with acute loss of vision at the age of 10 years. Progressive bilateral optic neuropathy, spastic paraparesis, and a predominantly motor type neuropathy developed over the next five years. Metabolic investigations revealed biotin depletion causing multiple carboxylase deficiency. The basic defect was a biotin recycling disorder due to a mutant biotinidase with residual activity of 4.4% assayed routinely. Biocytin excretion in urine was only slightly increased. Further investigations on plasma biotinidase revealed biphasic kinetics with two different reduced values for maximum reaction velocity (V(max)) and two for the Michaelis constant (K(m)), one being almost normal and the other considerably raised. In contrast to this patient, two age matched children with partial biotinidase deficiency (2.8% and 2.9% of normal), but with a normal K(m) for biocytin, remained asymptomatic. After six months of oral substitution with 10 mg biotin per day the coecocentral and peripheral scotomata regressed, the pyramidal signs in the lower limbs disappeared, and further progression of the motor neuropathy arrested. We conclude that the differential diagnosis of unexplained bilateral optic neuropathy of juvenile onset, particularly when associated with upper and lower motor neuron disease, should include biotinidase deficiency.
引用
收藏
页码:115 / 119
页数:5
相关论文
共 16 条
[1]  
BAKER H, 1983, NUTR REP INT, V27, P661
[2]   BIOTINIDASE DEFICIENCY - A CAUSE OF SUBACUTE NECROTIZING ENCEPHALOMYELOPATHY (LEIGH SYNDROME) - REPORT OF A CASE WITH LETHAL OUTCOME [J].
BAUMGARTNER, ER ;
SUORMALA, TM ;
WICK, H ;
PROBST, A ;
BLAUENSTEIN, U ;
BACHMANN, C ;
VEST, M .
PEDIATRIC RESEARCH, 1989, 26 (03) :260-266
[3]  
FRIGG M, 1976, INT J VITAM NUTR RES, V46, P314
[4]  
KNAPPE J, 1963, BIOCHEM Z, V338, P599
[5]  
MCVOY JRS, 1990, J PEDIATR-US, V116, P78, DOI 10.1016/S0022-3476(05)81649-X
[6]   A MITOCHONDRIAL-DNA MUTATION AS A CAUSE OF LEBERS HEREDITARY OPTIC NEUROPATHY [J].
SINGH, G ;
LOTT, MT ;
WALLACE, DC .
NEW ENGLAND JOURNAL OF MEDICINE, 1989, 320 (20) :1300-1305
[7]   RAPID DIFFERENTIAL-DIAGNOSIS OF CARBOXYLASE DEFICIENCIES AND EVALUATION FOR BIOTIN-RESPONSIVENESS IN A SINGLE BLOOD-SAMPLE [J].
SUORMALA, T ;
WICK, H ;
BONJOUR, JP ;
BAUMGARTNER, ER .
CLINICA CHIMICA ACTA, 1985, 145 (02) :151-162
[8]   QUANTITATIVE-DETERMINATION OF BIOCYTIN IN URINE OF PATIENTS WITH BIOTINIDASE DEFICIENCY USING HIGH-PERFORMANCE LIQUID-CHROMATOGRAPHY (HPLC) [J].
SUORMALA, TM ;
BAUMGARTNER, ER ;
BAUSCH, J ;
HOLICK, W ;
WICK, H .
CLINICA CHIMICA ACTA, 1988, 177 (03) :253-269
[9]   COMPARISON OF PATIENTS WITH COMPLETE AND PARTIAL BIOTINIDASE DEFICIENCY - BIOCHEMICAL-STUDIES [J].
SUORMALA, TM ;
BAUMGARTNER, ER ;
WICK, H ;
SCHEIBENREITER, S ;
SCHWEITZER, S .
JOURNAL OF INHERITED METABOLIC DISEASE, 1990, 13 (01) :76-92
[10]  
SWEETMAN L, 1986, ANNU REV NUTR, V6, P317, DOI 10.1146/annurev.nu.06.070186.001533