Results 61 to 70 of about 14,220 (236)

Cellular and computational models reveal environmental and genetic interactions in MMUT-type methylmalonic aciduria

bioRxiv, 2022
MMUT-type methylmalonic aciduria is a rare inherited metabolic disease caused by the loss of function of the methylmalonyl-CoA mutase (MMUT) enzyme. Patients develop symptoms resembling those of primary mitochondrial disorders, but the underlying causes ...
Charlotte Ramon, Floriano Traversi, Céline Bürer, D. Froese, J. Stelling   +4 more
semanticscholar   +1 more source

Evidence of Oxidative Stress and Secondary Mitochondrial Dysfunction in Metabolic and Non-Metabolic Disorders [PDF]

, 2017
: Mitochondrial dysfunction and oxidative stress have been implicated in the pathogenesis of a number of diseases and conditions. Oxidative stress occurs once the antioxidant defenses of the body become overwhelmed and are no longer able to detoxify ...
Angermuller, Artuch, Brismar, Calabresi, Carre, Duarte, El-Bassyouni, Fenton, Hayashi, Krahenbuhl, Lindblad, Manoli, Manoli, Martin, McMurry, Moser, Reza Rezvani, Royes, Schrakamp, Scriver, Taneka, Trinh, Van Bakel, Velema, Wilke, Williams   +25 more
core   +1 more source

Vitamin B12 Deficiency and Infantile Convulsions

Pediatric Neurology Briefs, 1999
The association of vitamin B12 deficiency and benign familial infantile convulsions (BFIC) is reported in one 4-month-old boy admitted to the University Hospital, Lund, Sweden, and in an additional 4 of 14 infants with BFIC who were found to have ...
J Gordon Millichap
doaj   +1 more source

Structural Study of the Complex of cblC Methylmalonic Aciduria and Homocystinuria-Related Protein MMACHC with Cyanocobalamin

Crystals, 2022
MMACHC is an essential protein for the body to metabolise vitamin B12, and its deficiency will cause cblC-type methylmalonic aciduria and homocystinuria. MMACHC can interact with cyanocobalamin (a type of vitamin B12) cofactor and plays an important role
Qin Xu, Huan Zhou, Minjun Li, Weiwei Wang, Mengxue Xu, Zhimin Zhu, Chenyu Zhang, Qisheng Wang, F. Yu, Jianhua He   +9 more
semanticscholar   +1 more source

A Rare Case of Malonic Aciduria Diagnosed by Newborn Screening in Qatar

International Journal of Neonatal Screening, 2017
Malonic aciduria is a rare autosomal recessive organic acid disorder. With the widespread use of tandem mass spectrometry for analysis of the amino acid/acylcarnitine profile on dried blood spots for newborn screening (NBS), this condition can be readily
Mamatha Ramaswamy, Victor Anthony Skrinska, Ghassan Abdoh, Laila Mahmoud Ahmed, Rola Fayez Mitri, Ravi Joshi   +5 more
doaj   +1 more source

Expanded carrier screening: A current perspective [PDF]

, 2018
Prenatal carrier screening has expanded to include a large number of genes offered to all couples considering pregnancy or with an ongoing pregnancy.
Al-Kouatly, Hb, Berghella, V, Carbone, Luigi, D'Alessandro, P, De Vivo, V, Esposito, G, Giuliani, Arduino, Maruotti, Gm, Mastantuoni, Enrica, Paternoster, M, Raffone, A, Saccone, G, Zullo, F.   +12 more
core   +1 more source

Carglumic acid enhances rapid ammonia detoxification in classical organic acidurias with a favourable risk-benefit profile: A retrospective observational study [PDF]

, 2016
BACKGROUND: Isovaleric aciduria (IVA), propionic aciduria (PA) and methylmalonic aciduria (MMA) are inherited organic acidurias (OAs) in which impaired organic acid metabolism induces hyperammonaemia arising partly from secondary deficiency of N ...
Baruteau, J, Cano, A, Chakrapani, A, Coker, M, Couce, ML, Del Toro, M, Delgado, MB, Donati, MA, Garcia-Cazorla, A, Gil-Ortega, D, Gomez-De Quero, P, Guffon, N, Hofstede, FC, Kalkan-Ucar, S, Lama-More, R, Le Mouhaer, J, Martinez-Pardo Casanova, M, Molina, A, Papadia, F, Pichard, S, Plisson, C, Rosello, P, Valayannopoulos, V   +22 more
core   +1 more source

Insuficiencia hepática aguda asociada a enfermedades metabólicas hereditarias en ninos pequenos [PDF]

, 2017
INTRODUCTION: Pediatric acute liver failure (ALF) due to inherited metabolic diseases (IMD) is a rare life-threatening condition with a poor prognosis. Early intervention may be lifesaving.
Dias-Costa, F, Diogo, L, Ferreira, S, Garcia, P, Gonçalves, I, Moinho, R, Pinto, C   +6 more
core   +1 more source

Cobalamin c deficiency associated with antifactor h antibody-associated hemolytic uremic syndrome in a young adult

BMC Nephrology, 2020
Background Thrombotic microangiopathy (TMA) syndromes are characterized by the association of hemolytic anemia, thrombocytopenia and organ injury due to arteriolar and capillary thrombosis.
C. Philipponnet, J. Desenclos, M. Brailova, J. Aniort, J. L. Kemeny, C. Deville, V. Fremeaux-Bacchi, B. Souweine, A. E. Heng   +8 more
doaj   +1 more source

Effect of vitamin B12 derivatives on urinary excretion of methylmalonic acid in liver diseases [PDF]

, 1970
1. Twenty.one patients with liver diseases were studied for their urinary mehylmalonic acid excretion after a valine load by means of an improved thin layer chromatography. 2.
Taketa, Kazuhisa, Ueda, Masatoshi
core   +1 more source