Biotinidase deficiency

Indian Pediatrics

Volumn 45, Issue 9, 2008, Pages 777-779

  Dahiphale, Ramdas ^a   Jain, Shreepal ^a   Agrawal, Mukesh ^a  

^a BYL NAIR CHARITABLE HOSPITAL   (India)

Author keywords

Biotinidase deficiency; Inborn error of metabolism

Indexed keywords

BIOTIN; PHENOBARBITAL;

ARTICLE; BIOTINIDASE DEFICIENCY; CASE REPORT; DISEASE COURSE; ENZYME ASSAY; HUMAN; INFANT; LABORATORY TEST; MALE; METABOLIC ACIDOSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; SEIZURE; SKIN DISEASE; TREATMENT RESPONSE;

ACIDOSIS; ALOPECIA; BIOTIN; BIOTINIDASE DEFICIENCY; DERMATITIS, SEBORRHEIC; EPILEPSY; HUMANS; INFANT; MALE;

EID: 51349111369     PISSN: 00196061     EISSN: 00196061     Source Type: Journal    
DOI: None     Document Type: Article

References (9)

1. Wolf B. Disorders of Biotin Metabolism. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds). The Metabolic and Molecular Bases of Inherited Disease. 8th ed. New York: McGraw-Hill; 2001.p.3935-3962.
2. Wolf B. Worldwide survey of neonatal screening for biotinidase deficiency. J Inherit Metab Dis 1991; 14: 923-927.
3. Apte BN. Private practices in genetics: Future scope in Mumbai. Bombay Hosp J 2006; 48: 93-99.
4. Devi AR, Naushad SM. Newborn screening in India. Indian J Pediatr 2004; 71: 157-160.
5. Gulati S, Vaswani M, Kalra V, Kabra M, Kaur M. An approach to neurometabolic disorders by a simple metabolic screen. Indian Pediatr 2000; 37: 63-69.
6. Lott IT, Lottenberg S, Nyhan WL, Buchsbaum MJ. Cerebral metabolic changes after treatment in biotinidase deficiency. J Inherit Metab Dis 1993: 16: 399-400.
7. Heard GS, Secor McVoy JR, Wolf B. A screening method for biotinidase deficiency in newborns. ClinChem 1984; 30: 125-127.
8. Hymes J, Stanley CM. Wolf B. Mutations in BTD causing biotinidase deficiency. Hum Mutat 2001; 18: 375-381.
9. Weber P, Scholl S, Baumgartner ER. Outcome in patients with profound biotinidase deficiency: relevance of newborn screening. Dev Med Child Neurol2004; 46: 481-484.