geoscience.net logo
+ Resolve Article
+ Follow Us
Follow on FacebookFollow on Facebook
Follow on TwitterFollow on Twitter

+ Translate
+ Subscribe to Site Feed
GeoScience Most Shared ContentMost Shared Content

Biotinidase deficiency in childhood


, : Biotinidase deficiency in childhood. Neurology India 61(4): 411-413

This study reports the clinical, laboratory profile and outcome in seven patients with biotinidase deficiency. The serum biotinidase activity was assayed using spectrophotometric analysis. The age at presentation varied from day 1 of life to the 5 th month. Seizures were the presenting complaint in six patients and clonic seizures were the predominant seizure type. Sparse hair was seen in four patients, while three did not have any cutaneous manifestation. None of the patients had acidosis or hyperammonemia. The clinical response to biotin was dramatic with seizure control in all patients. One patient had neurological deficit at follow-up, while none had optic atrophy or sensorineural hearing loss. Biotinidase deficiency, a potentially treatable condition, should be thought of in any child presenting with neurological symptoms, especially seizures, even in the absence of cutaneous or laboratory manifestations.

US$19.90

PMID: 24005734

DOI: 10.4103/0028-3886.117614


Other references

Eidt, J.F., 2012: Invited commentary. Journal of Vascular Surgery 55(5): 1285-1286

Masliuk, V.I.; Popov, V.G.; Popova, T.A.; Litvintsev, V.P., 1972: Treatment of cardiac insufficiency with cardiac glycosides in a complex with preparations effecting nucleic acid synthesis and energy formation. Kardiologiia 12(1): 45-52

Wood, S.F., 1986: Astemizole and terfenadine compared in hay fever. Practitioner 230(1411): 41-44

Zhang, J.; Walk, S.F.; Ravichandran, K.S.; Garrison, J.C., 2009: Regulation of the Src homology 2 domain-containing inositol 5'-phosphatase (SHIP1) by the cyclic AMP-dependent protein kinase. Many agents that activate hematopoietic cells use phos pha tidyl ino si tol 3,4,5-trisphosphate (PtdIns 3,4,5-P(3)) to initiate signaling cascades. The SH2 domain-containing inositol 5' phosphatase, SHIP1, regulates hematopoietic cell functio...

Kumar, R.; Tripathi, M.; Behari, K., 2003: Studies on graft copolymerization of acrylamide onto guar gum using vanadium /mandelic acid redox pair. Abstracts of Papers American Chemical Society 225(1-2): PMSE 266

Vezzani,D.; Carbajo,A.E., 2008: Aedes aegypti, Aedes albopictus, and dengue in Argentina current knowledge and future directions. Since the reinfestation of South American countries by <i>Ae. aegypti</i>, dengue fever (DF) and dengue hemorrhagic fever (DHF) have become a major public health concern. The aim of this paper was to review the information related with...

Ferrero, A.; Vidotto, F., 1997: Characteristics of crodo rice at emergence. The results are summarized of field trials conducted at Olcenengo in 1994-96 to study the effects on the emergence of crodo rice (Oryza sativa var. sylvatica) of environmental conditions and agronomic practices. In untilled soil irrigated at the e...

Smyk, Mark C., 2010: Overview and self-guided field trip through the Coldwell Complex. Ontario Geological Survey: 1-20

Gel'fgat E.B.; Zeinalov A.A.; Aritova T.F.; Israfilbekova F.R., 1984: The prevalence of arterial hypertension among the workers of oil refiners of baku azerbaijan ssr ussr. Azerbaidzhanskii Meditsinskii Zhurnal (1): 3-7

Barnes, K.E., 1990: Clinical overview of acquired immune deficiency syndrome (AIDS) and human immunodeficiency virus (HIV)-related disease. American Industrial Hygiene Association Journal 51(11): A738-A741