Biotinidase deficiency: A treatable cause of infantile seizures

Journal of Pediatric Neurosciences

Volumn 5, Issue 1, 2010, Pages 82-83

  Bhardwaj, Parveen ^a   Kaushal, Ram Krishan ^a   Chandel, Akshat ^a  

^a INDIRA GANDHI MEDICAL COLLEGE   (India)

Author keywords

[No Author keywords available]

Indexed keywords

BIOTIN; VALPROIC ACID;

ADRENAL CORTEX ATROPHY; ALOPECIA; BIOTINIDASE DEFICIENCY; CASE REPORT; CLINICAL EVALUATION; DEVELOPMENTAL DISORDER; HUMAN; INFANT; IRRITABILITY; LETTER; MALE; MUSCLE HYPOTONIA; SEIZURE; TREATMENT OUTCOME;

EID: 77955882220     PISSN: 18171745     EISSN: 19983948     Source Type: Journal    
DOI: 10.4103/1817-1745.66660     Document Type: Letter

References (7)

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2. Wolf B. Disorders of Biotin Metabolism. 8th ed. The Metabolic and Molecular Bases of Inherited Disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. New York: McGraw-Hill; 2001. p. 3935-3962
3. Wastell HJ, Bartlett K, Dale G, Shein A. Biotidinase deficiency: a survey of 10 cases. Arch Dis Child 1998;63:1244-1249
4. Wolf B, Grier RE, Allen RJ, Goodman SI, Kien CL. Biotinidase deficiency: the enzymatic defect in late-onset multiple carboxylase deficiency. Clin Chim Acta 1983;131:273-281
5. Burri BJ, Sweetman L, Nyhan WL. Mutant holocarboxylase synthetase. Evidence for the enzyme defect in early infantile biotin responsive multiple carboxylase deficiency. J Clin Invest 1981;68:1491-1495
6. Dahiphale R, Jain S, Agrawal M. Biotinidase Deficiency. Indian Pediatr 2008;45:777-779
7. Heard GS, Secor McVoy JR, Wolf B. A screening method for biotinidase deficiency in newborns. Clin Chem 1984;30:125-127