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.
Excerpt | Relevance | Reference |
---|---|---|
"Biotinidase deficiency is a treatable cause of infantile epilepsy and the presentation can be nonspecific." | 1.40 | Abnormal 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." | 1.35 | Biotinidase deficiency: a reversible metabolic encephalopathy. Neuroimaging and MR spectroscopic findings in a series of four patients. ( Desai, S; Ganesan, K; Hegde, A, 2008) |
Timeframe | Studies, this research(%) | All Research% |
---|---|---|
pre-1990 | 0 (0.00) | 18.7374 |
1990's | 0 (0.00) | 18.2507 |
2000's | 2 (66.67) | 29.6817 |
2010's | 1 (33.33) | 24.3611 |
2020's | 0 (0.00) | 2.80 |
Authors | Studies |
---|---|
Desai, S | 1 |
Ganesan, K | 1 |
Hegde, A | 1 |
Krishnakumar, D | 1 |
Maw, A | 1 |
Brown, R | 1 |
Hogg, S | 1 |
Calvin, J | 1 |
Parker, AP | 1 |
Grünewald, S | 1 |
Champion, MP | 1 |
Leonard, JV | 1 |
Schaper, J | 1 |
Morris, AA | 1 |
3 other studies available for lactic acid and Biotinidase Deficiency
Article | Year |
---|---|
Biotinidase deficiency: a reversible metabolic encephalopathy. Neuroimaging and MR spectroscopic findings in a series of four patients.
Topics: Biomarkers; Biotinidase Deficiency; Brain; Brain Diseases, Metabolic; Female; Humans; Infant; Lactic | 2008 |
Abnormal cerebrospinal fluid biochemistry in biotinidase deficiency causing diagnostic conundrum.
Topics: Ammonia; Biotinidase Deficiency; Electroencephalography; Epilepsy; Female; Humans; Infant; Lactic Ac | 2014 |
Biotinidase deficiency: a treatable leukoencephalopathy.
Topics: Biotinidase Deficiency; Brain; Brain Diseases; Follow-Up Studies; Humans; Infant; Lactic Acid; Male; | 2004 |