Results 161 to 170 of about 12,610 (204)

Methylmalonic acidemia and kidney transplantation

Pediatric Nephrology, 2013
[No abstract available]
LUBRANO, Riccardo, Belen Perez, Marco Elli   +2 more
openaire   +3 more sources

Serum Proteome Profiling Implicates Dysregulation of Immune Response and Inflammatory Mechanisms in Methylmalonic Acidemia With Brain Injury

Journal of Neurochemistry
Methylmalonic acidemia (MMA) is the most common organic acidemia in childhood. Brain injury represents the most common clinical manifestation among MMA patients and is often associated with a poor prognosis.
Yumei Su, Jing Wei, Shuqi Sun, Lulu Jia, Qiliang Li   +4 more
semanticscholar   +1 more source

Prenatal detection of methylmalonic acidemia

The Journal of Pediatrics, 1970
Summary The case report of a pregnant woman heterozygous for methylmalonic acidemia is presented. The fetus was suspected of having the disease prenatally because of increasing amounts of methylmalonate in the maternal urine and in amniotic fluid during the third trimester. After birth the diagnosis of methylmalonic acidemia was confirmed in the child.
G, Marrow, R H, Schwarz, J A, Hallock, L A, Barness   +3 more
openaire   +2 more sources

Anesthetic Considerations in a Parturient With Methylmalonic Acidemia: A Case Report.

A&A practice
Methylmalonic acidemia (MMA) is an autosomal recessive inborn error of branched-chain amino acid metabolism that leads to an accumulation of methylmalonic acid.
Ari R Levine, Elizabeth Lange, Stephen Ellwood   +2 more
semanticscholar   +1 more source

Tubulointerstitial nephritis in methylmalonic acidemia

Pediatric Nephrology, 1993
We report two patients with methylmalonic acidemia (MMA) in whom renal biopsy demonstrated interstitial nephritis, bringing the total of such reported cases to four. In addition, hypertension, observed in one of our patients, has not been previously reported as the presentation of renal disease in MMA.
S L, Rutledge, M, Geraghty, E, Mroczek, D, Rosenblatt, E, Kohout   +4 more
openaire   +2 more sources

Anaesthetic Management of a Child with Methylmalonic Acidemia Undergoing Bilateral Orchidopexy – A Case Report

Journal of anaesthesia and critical care case reports
Background: Methylmalonic Acidemia (MMA) is an inborn error of metabolism caused by a deficiency in methylmalonyl CoA mutase, leading to increased protein catabolism, hyperammonemia and metabolic acidosis.
MD Athar, Kandukuri Bala Subramanyam
semanticscholar   +1 more source

Evaluation of the clinical, biochemical, genotype and prognosis of mut-type methylmalonic acidemia in 365 Chinese cases

Journal of Medical Genetics, 2023
Background Methylmalonic acidemia (MMA), which results from defects in methylmalonyl-CoA mutase (mut type) or its cofactor, is the most common inherited organic acid metabolic disease in China.
L. Liang, S. Ling, Yue-ming Yu, Ruixue Shuai, W. Qiu, Huiwen Zhang, L. Shen, Shengnan Wu, Haiyan Wei, Yongxing Chen, Chiju Yang, P. Xu, Xigui Chen, Hui Zou, Jizhen Feng, Tingting Niu, Haili Hu, Z. Gong, Ting Chen, X. Zhan, Xuefan Gu, Lianshu Han   +21 more
semanticscholar   +1 more source

Juvenile gout in methylmalonic acidemia

Pediatrics International, 2016
AbstractMethylmalonic acidemia (MMA) is an inborn error of metabolism caused by either deficiency of the enzyme methylmalonyl‐CoA mutase or a defect in adenosyl‐cobalamin synthesis. Chronic kidney disease is its common complication and, in combination with persistent acidosis, leads to hyperuricemia.
Sirirat, Charuvanij, Anirut, Pattaragarn, Wanee, Wisuthsarewong, Nithiwat, Vatanavicharn   +3 more
openaire   +2 more sources

Cardiac Disease in Methylmalonic Acidemia

The Journal of Pediatrics, 2011
Methylmalonic acidemia (MMA) is a heterogeneous disorder, with onset from infancy to adulthood and varying degrees of organ involvement and severity. Cardiac disease is a known lethal complication of other organic acidemias, but has not been associated with MMA. We identified 3 patients with MMA and cardiac disease.
Carlos E, Prada, Fatma, Al Jasmi, Edwin P, Kirk, Maxwell, Hopp, Owen, Jones, Nancy D, Leslie, T Andrew, Burrow   +6 more
openaire   +2 more sources

Assessment of Renal Function and Identification of Ocular Phenotype in Patients with Isolated Methylmalonic Acidemia in Egypt

The Quarterly journal of medicine
Isolated methylmalonic acidemia is a rare disease of propionate catabolism. The overall outcome of patients with isolated methylmalonic acidemia remains unsatisfying as illustrated by reports of late onset dysfunction in several organs.
Ola Ali Khalifa, Amal Ahmad Elgohary, A. H. Hassan, Nada Hammad Abdel Fattah, Engy Tarek Kamal   +4 more
semanticscholar   +1 more source