Page last updated: 2024-10-17

lactic acid and Microcephaly

lactic acid has been researched along with Microcephaly 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.

Microcephaly: A congenital abnormality in which the CEREBRUM is underdeveloped, the fontanels close prematurely, and, as a result, the head is small. (Desk Reference for Neuroscience, 2nd ed.)

Research Excerpts

ExcerptRelevanceReference
"Amish microcephaly (MCPHA, OMIM #607196) is a metabolic disorder that has been previously characterized by severe infantile lethal congenital microcephaly and alpha-ketoglutaric aciduria."1.36Amish microcephaly: Long-term survival and biochemical characterization. ( Prasad, AN; Prasad, C; Ratko, S; Rupar, CA; Siu, VM, 2010)

Research

Studies (3)

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

Authors

AuthorsStudies
Siu, VM1
Ratko, S1
Prasad, AN1
Prasad, C1
Rupar, CA1
Cassandrini, D1
Cilio, MR1
Bianchi, M1
Doimo, M1
Balestri, M1
Tessa, A1
Rizza, T1
Sartori, G1
Meschini, MC1
Nesti, C1
Tozzi, G1
Petruzzella, V1
Piemonte, F1
Bisceglia, L1
Bruno, C1
Dionisi-Vici, C1
D'Amico, A1
Fattori, F1
Carrozzo, R1
Salviati, L1
Santorelli, FM1
Bertini, E1
Sperl, W1
Jesina, P1
Zeman, J1
Mayr, JA1
Demeirleir, L1
VanCoster, R1
Pícková, A1
Hansíková, H1
Houst'ková, H1
Krejcík, Z1
Koch, J1
Smet, J1
Muss, W1
Holme, E1
Houstek, J1

Other Studies

3 other studies available for lactic acid and Microcephaly

ArticleYear
Amish microcephaly: Long-term survival and biochemical characterization.
    American journal of medical genetics. Part A, 2010, Volume: 152A, Issue:7

    Topics: Adult; Child; Ethnicity; Female; Humans; Infant; Infant, Newborn; Lactic Acid; Magnetic Resonance Im

2010
Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients.
    Journal of inherited metabolic disease, 2013, Volume: 36, Issue:1

    Topics: Arginine-tRNA Ligase; Cerebellum; Child, Preschool; Female; Follow-Up Studies; Humans; Infant; Infan

2013
Deficiency of mitochondrial ATP synthase of nuclear genetic origin.
    Neuromuscular disorders : NMD, 2006, Volume: 16, Issue:12

    Topics: Adenosine Triphosphate; Adolescent; Age of Onset; Cardiomyopathy, Hypertrophic, Familial; Cell Nucle

2006