Biotin responsive seizures and encephalopathy due to biotinidase deficiency

Neurology India

Volumn 58, Issue 2, 2010, Pages 323-324

  Joshi, Surendra Nath ^a   Fathalla, Mahmoud ^a   Koul, Roshan ^a   Al Maney, Matar ^a   Bayoumi, Riad ^a  

^a SULTAN QABOOS UNIVERSITY HOSPITAL   (Oman)

Author keywords

[No Author keywords available]

Indexed keywords

BIOTIN; CARBOXYLASE;

AUTOSOMAL RECESSIVE DISORDER; BIOTINIDASE DEFICIENCY; CASE REPORT; CLINICAL ASSESSMENT; ELECTROENCEPHALOGRAPHY; HUMAN; INFANT; LETTER; MALE; METABOLIC ENCEPHALOPATHY; NEUROLOGIC EXAMINATION; NEWBORN SCREENING; NUCLEAR MAGNETIC RESONANCE IMAGING; QUANTITATIVE ANALYSIS; SEIZURE; TREATMENT OUTCOME;

BIOTIN; BIOTINIDASE DEFICIENCY; BRAIN DISEASES, METABOLIC; ELECTROENCEPHALOGRAPHY; FAMILY HEALTH; HUMANS; INFANT; MALE; SEIZURES;

EID: 77953740813     PISSN: 00283886     EISSN: 19984022     Source Type: Journal    
DOI: 10.4103/0028-3886.63783     Document Type: Letter

References (3)

1. Sweetman L. Two forms of biotin-responsive multiple carboxylase deficiency. J Inherit Metab Dis 1981;4:53-54 (Pubitemid 11038396)
2. Wolf B, Grier RE, Allen RJ, Goodman SI, Kien CL. Biotinidase deficiency: The enzyme defect in late-onset multiple carboxylase deficiency. Clin Chem Acta 1983;131:273-281 (Pubitemid 13059045)
3. Wolf B. Disorders of biotin metabolism: Treatable neurological syndromes. In: Rosenberg R, Prusiner SB, Di Mauro S, Barchi RL, Kunkel LM, editors. The molecular and genetic basis of neurological disease. Stoneham MA: Butterworth; 1993.