Results 81 to 90 of about 7,812 (191)

The utility of methylmalonic acid, methylcitrate acid, and homocysteine in dried blood spots for therapeutic monitoring of three inherited metabolic diseases

Frontiers in Nutrition
BackgroudRoutine metabolic assessments for methylmalonic acidemia (MMA), propionic acidemia (PA), and homocysteinemia involve detecting metabolites in dried blood spots (DBS) and analyzing specific biomarkers in serum and urine.
Yi Liu, Xue Ma, Lulu Kang, Ying Jin, Mengqiu Li, Jinqing Song, Haixia Li, Yongtong Cao, Yanling Yang   +8 more
doaj   +1 more source

Neurocognitive Phenotype of Isolated Methylmalonic Acidemia [PDF]

Pediatrics, 2012
OBJECTIVE: Methylmalonic acidemia (MMA) is a metabolic disorder with a poorly defined long-term neurocognitive phenotype. We studied the neuropsychological outcomes of patients and examined clinical covariates that influenced cognition.
Colin J, O'Shea, Jennifer L, Sloan, Edythe A, Wiggs, Maryland, Pao, Andrea, Gropman, Eva H, Baker, Irini, Manoli, Charles P, Venditti, Joseph, Snow   +8 more
openaire   +2 more sources

Long Term Follow‐Up After Transplantation in Propionic Acidemia: A Retrospective French Pediatric and Adult Cohort Study

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT Propionic acidemia (PA) is a rare inherited metabolic disorder associated with recurrent metabolic decompensations and chronic multisystemic complications. Liver transplantation (LT) may improve metabolic stability, but its long‐term impact on organ involvement remains debated.
Tristan Mekdade, Claire‐Marine Bérat, Manuel Schiff, Margaux Gaschignard, Juliette Bouchereau, Jean‐Baptiste Arnoux, Claire Francoz, Aude Servais, Myriam Dao, Vickie Lacroix, Julien Maquet, Apolline Imbard, Edouard Le Guillou, Clément Pontoizeau, Jean‐François Benoist, Mehdi Oualha, Marion Grimaud, Charles de Marcellus, Laurent Sabbah, Claire Mayer, Christophe Chardot, Carmen Capito, Diala Khraiche, Florence Lacaille, Pascale de Lonlay, Anaïs Brassier   +25 more
wiley   +1 more source

First National Expanded Genomic Newborn Screening Program in Qatar; A Pilot Study, Doha‐Heidelberg Collaboration

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2374-2380, October 2026.
Reem Alsulaiman, Sarah Okashah, Radja Messai Badji, Fatemeh Abbaszadeh, Yaser Alsarraj, Rehab Ali Abdulrahman, Noora Shahbeck, Thalib Moideen, Reema El Hassan, Fatima Al‐Hamaydeh, Einas Alkuwari, Said Ismail, Hilal Al‐ Rifai, Ghassan Abdoh, Christian P. Schaaf, Georg Hoffmann, Saad Al‐Kaabi, Wadha Al‐Muftah, Tawfeg Ben‐Omran   +18 more
wiley   +1 more source

Liver Cancer in Methylmalonic and Propionic Acidemias: A Rare Complication? A Clinico‐Pathological Study of 24 Livers

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT In methylmalonic (MMA) and propionic acidemias (PA), liver or liver‐kidney transplantation (Tx) is indicated for metabolic decompensations, kidney failure (MMA), and to improve quality of life. Liver cancer was reported in five patients with MMA.
Léa Zloty, Mouna Aoun, Carmen Capito, Anaïs Brassier, Guillaume Morcrette, Ugo Cucinotta, Laurène Dehoux, Claire Mayer, Jean‐Paul Duong Van Huynh, Apolline Imbard, Jean‐François Benoist, Christophe Chardot, Manuel Schiff, Pascale de Lonlay, Monique Fabre, Florence Lacaille   +15 more
wiley   +1 more source

High cognitive outcome in an adolescent with mut(-) methylmalonic acidemia

, 2000
Methylmalonic acidemia is an inborn error of metabolism known to be a cause of ketoacidosis and mental retardation. The less severe mut(-) form of the disorder, however, has been described with only mild to moderate cognitive deficits or, rarely, with ...
Varvogli, L, Repetto, GM, Waisbren, SE, Levy, HL   +3 more
core   +1 more source

Image_1_Methylmalonic acid levels in serum, exosomes, and urine and its association with cblC type methylmalonic acidemia-induced cognitive impairment.JPEG

, 2022
BackgroundThe cblC type methylmalonic acidemia is the most common methylmalonic acidemia (MMA) in China. The biochemical characteristics of this disease include elevated methylmalonic acid and homocysteine (HCY), increased propionylcarnitine (C3 ...
Shuqi Sun (2830394), Yu Rong (1340493), Wenqi Song (503416), Hong Jin (65601), Qiliang Li (1459033)   +4 more
core   +1 more source

Impaired Fat Metabolism During Exercise in Patients With Methylmalonic and Propionic Acidemia

JIMD Reports, Volume 67, Issue 4, July 2026.
ABSTRACT Methylmalonic acidemia (MMA) and propionic acidemia (PA) are inherited metabolic diseases causing deficiency in the catabolism of amino acids, cholesterol, and odd‐chain fatty acids. Both patient groups report exercise intolerance and fatigue.
S. Myrup, A. Høj, M. M. Naume, N. Løkken, G. Van Hall, A. Lund, M. Duno, J. Vissing, M. C. Ørngreen   +8 more
wiley   +1 more source

A Novel Fetal Intracranial Measurement Contributing to the Differential Diagnosis of Fetal Microcephaly

Journal of Ultrasound in Medicine, Volume 45, Issue 7, Page 1409-1418, July 2026.
Objectives To evaluate the value of the thickness of the frontal lobe (TFL) and foramen magnum‐to‐cranium distance (FCD) for predicting poor neurodevelopmental outcomes in fetuses with a small head circumference (HC). Methods This retrospective observational study included 39 fetuses with HC < −2 standard deviations (SD) and 592 prospectively collected
Xi Du, Rong Zhu, HongJia Li, Ying Zhao, LinLin Wu, Hong Pan, YiNan Ma, XinLin Hou, JunYa Chen   +8 more
wiley   +1 more source

Cytosolic Phosphoenoylpyruvate Carboxykinase Deficiency: Clinical, Biochemical, and Genetic Features of Five Non‐Finnish Patients

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1192-1203, June 2026.
ABSTRACT Cytosolic phosphoenoylpyruvate carboxykinase (PEPCK‐C) is an essential, rate‐limiting enzyme in the gluconeogenesis pathway. PEPCK‐C deficiency presents with hypoglycaemia, hyperlactataemia and hepatopathy, and was first reported in association with bi‐allelic PCK1 variants in 2014.
Isaac Bernhardt, Polona Le Quesne Stabej, Claire Hart, Mark De Hora, Sarah Hulley, Mark Anderson, Harry G. Leitch, Hugh Lemonde, Bryony Ryder, James Davison   +9 more
wiley   +1 more source