Page last updated: 2024-10-17

lactic acid and Biotinidase Deficiency

lactic acid has been researched along with Biotinidase Deficiency in 3 studies

Lactic Acid: A normal intermediate in the fermentation (oxidation, metabolism) of sugar. The concentrated form is used internally to prevent gastrointestinal fermentation. (From Stedman, 26th ed)
2-hydroxypropanoic acid : A 2-hydroxy monocarboxylic acid that is propanoic acid in which one of the alpha-hydrogens is replaced by a hydroxy group.

Biotinidase Deficiency: The late onset form of MULTIPLE CARBOXYLASE DEFICIENCY (deficiency of the activities of biotin-dependent enzymes propionyl-CoA carboxylase, methylcrotonyl-CoA carboxylase, and PYRUVATE CARBOXYLASE) due to a defect or deficiency in biotinidase which is essential for recycling BIOTIN.

Research Excerpts

ExcerptRelevanceReference
"Biotinidase deficiency is a treatable cause of infantile epilepsy and the presentation can be nonspecific."1.40Abnormal cerebrospinal fluid biochemistry in biotinidase deficiency causing diagnostic conundrum. ( Brown, R; Calvin, J; Hogg, S; Krishnakumar, D; Maw, A; Parker, AP, 2014)
"Biotinidase deficiency is a metabolic disorder characterized by inability to recycle biotin with resultant delayed myelination."1.35Biotinidase deficiency: a reversible metabolic encephalopathy. Neuroimaging and MR spectroscopic findings in a series of four patients. ( Desai, S; Ganesan, K; Hegde, A, 2008)

Research

Studies (3)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's2 (66.67)29.6817
2010's1 (33.33)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Desai, S1
Ganesan, K1
Hegde, A1
Krishnakumar, D1
Maw, A1
Brown, R1
Hogg, S1
Calvin, J1
Parker, AP1
Grünewald, S1
Champion, MP1
Leonard, JV1
Schaper, J1
Morris, AA1

Other Studies

3 other studies available for lactic acid and Biotinidase Deficiency

ArticleYear
Biotinidase deficiency: a reversible metabolic encephalopathy. Neuroimaging and MR spectroscopic findings in a series of four patients.
    Pediatric radiology, 2008, Volume: 38, Issue:8

    Topics: Biomarkers; Biotinidase Deficiency; Brain; Brain Diseases, Metabolic; Female; Humans; Infant; Lactic

2008
Abnormal cerebrospinal fluid biochemistry in biotinidase deficiency causing diagnostic conundrum.
    Journal of child neurology, 2014, Volume: 29, Issue:1

    Topics: Ammonia; Biotinidase Deficiency; Electroencephalography; Epilepsy; Female; Humans; Infant; Lactic Ac

2014
Biotinidase deficiency: a treatable leukoencephalopathy.
    Neuropediatrics, 2004, Volume: 35, Issue:4

    Topics: Biotinidase Deficiency; Brain; Brain Diseases; Follow-Up Studies; Humans; Infant; Lactic Acid; Male;

2004