Results 171 to 180 of about 12,610 (204)

Haplotype‐based noninvasive prenatal diagnosis of methylmalonic acidemia and the discovery of a recurrent pathogenic haplotype associated with c.609G>A

Prenatal Diagnosis, 2023
Early diagnosis and intervention are crucial for the prognosis of methylmalonic acidemia (MMA). However, research focused on early prenatal diagnosis of MMA is limited.
Xinyu Fu, Shaojun Li, Zhen-hua Zhao, L. Kong, Jingqi Zhu, Huanyun Li, Jun Feng, Weiqin Tang, Di Wu, Xiangdong Kong   +9 more
semanticscholar   +1 more source

Methylmalonic Acidemia and Propionic Acidemia

2005
Abstract This chapter discusses methylmalonic acidemia and propionic acidemia, including clinical features, biochemical abnormalities, factors to be considered in nutritional evaluation and treatment, dietary management, other treatments, monitoring, and long-term outcomes.
openaire   +1 more source

Living‐donor liver transplantation for methylmalonic acidemia patient with hepatocellular carcinoma: A case report and literature review

Pediatric Transplantation
Methylmalonic acidemia (MMA) is an autosomal recessive disorder caused by defects in propionyl‐CoA (P‐CoA) catabolism; of note, liver neoplasms rarely occur as a long‐term complication of the disorder. Herein, we report the case of a patient with MMA and
Harunori Deguchi, S. Sakamoto, S. Shimizu, A. Fukuda, H. Uchida, Y. Yanagi, T. Nakao, T. Kodama, Ryuji Komine, K. Nishi, K. Kamei, Chizuko Haga, T. Yoshioka, Kimikazu Matsumoto, Reiko Horikawa, M. Kasahara   +15 more
semanticscholar   +1 more source

Optic neuropathy in classical methylmalonic acidemia

Ophthalmic Genetics, 2019
Background: Classical MMA, caused by methylmalonyl-CoA mutase deficiency, may result in late-onset dysfunction in several organ systems. To date, 10 cases of optic neuropathy have been reported. The prevalence of optic neuropathy in visually asymptomatic patients has not been determined.
Mohammed AlOwain, Ola Ali Khalifa, Zahra Al Sahlawi, Maged H Hussein, Raashda A Sulaiman, Moeen Al-Sayed, Zuhair Rahbeeni, Zuhair Al-Hassnan, Hamad Al-Zaidan, Hachemi Nezzar, Iftetah Al Homoud, Abdelmoneim Eldali, Brian Altonen, Bedour S Handoom, Joyce N Mbekeani   +14 more
openaire   +2 more sources

Progressive renal insufficiency in methylmalonic acidemia

Pediatric Nephrology, 1991
Methylmalonic acidemia is a heterogeneous inborn error of propionate metabolism. Therapy frequently includes a low-protein diet to minimize precursors of methylmalonic acid (MMA) and reduce its concentration in body tissues. Renal dysfunction in these patients is increasingly recognized.
K H, Molteni, T D, Oberley, J A, Wolff, A L, Friedman   +3 more
openaire   +2 more sources

Bone Health Assessment in Patients with Methylmalonic Acidemia

The Quarterly journal of medicine
Methylmalonic acidemia (MMA) is a genetically heterogeneous disorder of methylmalonate and cobalamin metabolism. Isolated MMA is a rare inherited disorder of organic acid metabolism associated with elevated methylmalonic acid concentration in the ...
Mohmed Emam, Heba El Sedafy, Omar Hussain Omar, Nada Hammad, Marawa Hasab Elnabi, S. Elsayed   +5 more
semanticscholar   +1 more source

Abnormal Hepatocellular Mitochondria in Methylmalonic Acidemia

Ultrastructural Pathology, 2014
Methylmalonic acidemia (MMA) is one of the most frequently encountered forms of branched-chain organic acidemias. Biochemical abnormalities seen in some MMA patients, such as lactic acidemia and increased tricarboxylic acid cycle intermediate excretion, suggest mitochondrial dysfunction.
Yael, Wilnai, Gregory M, Enns, Anna-Kaisa, Niemi, John, Higgins, Hannes, Vogel   +4 more
openaire   +2 more sources

Isolated methylmalonic acidemia: a case report

Annales de biologie clinique, 2016
Isolated methylmalonic acidemia (AMR) is an inborn error of metabolism due to an enzymatic deficit in methylmalonyl-CoA mutase. AMR lead to increased methylmalonic acid in plasma and urine without hyperhomocysteinemia. The clinical signs are recurrent episodes of ketoacidosis and bouts of vomiting, dehydration and mental retardation.
Tarik, Es Sadki, Stéphanie, Badiou, Mathilde, Boubal, Julien, Baleine, Victor, Sieso, Catherine, Vallat, Jean-Paul, Cristol, Christine, Vianey-Saban, Gilles, Cambonie   +8 more
openaire   +2 more sources

Hydrocephalus in cblC type methylmalonic acidemia

Metabolic Brain Disease, 2018
Methylmalonic acidemia (MMA) is a typical type of organic acidemia caused by defects in methylmalonyl-CoA mutase or adenosyl-cobalamin synthesis. Hydrocephalus (HC), results from an imbalance between production and absorption of cerebrospinal fluid (CSF), causeing enlarged cerebral ventricles and increased intracranial pressure, is a condition that ...
Kaihui, Zhang, Min, Gao, Guangyu, Wang, Yingying, Shi, Xiaoying, Li, Yvqiang, Lv, Guangye, Zhang, Zhongtao, Gai, Yi, Liu   +8 more
openaire   +2 more sources

Pulmonary artery hypertension in methylmalonic acidemia

Hemodialysis International, 2016
AbstractMethylmalonic acidemia (MMA) is an autosomal recessive disorder that can be classified into two types: (1) vitamin B12‐responsive and (2) vitamin B12‐non‐responsive. In MMA cases with long‐term survival, renal failure is often a problem, and timing for kidney transplantation for MMA is controversial.
Jun, Kido, Hiroshi, Mitsubuchi, Mina, Sakanashi, Junichi, Matsubara, Shirou, Matsumoto, Rieko, Sakamoto, Fumio, Endo, Kimitoshi, Nakamura   +7 more
openaire   +2 more sources