Results 11 to 20 of about 2,810 (170)

Methylmalonic acidemia: Neurodevelopment and neuroimaging

Frontiers in Neuroscience, 2023
Methylmalonic acidemia (MMA) is a genetic disease of abnormal organic acid metabolism, which is one of the important factors affecting the survival rate and quality of life of newborns or infants. Early detection and diagnosis are particularly important.
Tao Chen, Yian Gao, Shengdong Zhang, Yuanyuan Wang, Chaofan Sui, Linfeng Yang   +5 more
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A 17 Year Old With Developmental Delay Presenting With Increasing Confusion and Imbalance

Annals of Clinical and Translational Neurology
Methylmalonic acidemia is an autosomal recessive genetic disorder primarily caused by defects in methylmalonyl‐CoA mutase and cobalamin (vitamin B12) metabolism. These defects disrupt the tricarboxylic acid cycle and oxidative phosphorylation, leading to
Wei Zhao, Yingli Zhang, Hongliang Zheng
doaj   +2 more sources

Methylmalonic acidemia with emergency hypertension

Nefrología (English Edition), 2016
Bahareh Yaghmaei, Parastoo Rostami, Farnaz Najmi Varzaneh, Behdad Gharib, Behnaz Bazargani, Nima Rezaei   +5 more
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Vitamin B12 Deficiency (Un-)Detected Using Newborn Screening in Norway

International Journal of Neonatal Screening, 2023
Untreated vitamin B12 (B12) deficiency may cause delayed development in infants. Several newborn screening (NBS) programs have reported an increased detection rate of B12 deficiency when second-tier dried blood spot (DBS) analyses of total homocysteine ...
Trine Tangeraas, Ulf W. Ljungblad, Elma Lutvica, Erle Kristensen, Alex D. Rowe, Anne-Lise Bjørke-Monsen, Terje Rootwelt-Revheim, Ingjerd Sæves, Rolf D. Pettersen   +8 more
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CLINICAL CASE OF METHYLMALONIC ACIDEMIA

Байкальский медицинский журнал, 2023
The paper describes a clinical case of methylmalonic acidemia in a newborn premature baby with a aggravated genealogical and obstetric history. The problems of diagnosing aminoacidopathy as a large heterogeneous group of hereditary diseases, which, as a ...
Elena Anatolyevna Tkachuk, Darya Mikhailovna Barykova, Yuliya Sergeevna Livadarova, Igor Zhanovich Seminsky, Tatyana Alexandrovna Astakhova, Elena Gennadievna Osipova, Yuliya Viktorovna Mikhelsone, Tatyana Yuryevna Dorofeeva, Nikolay Vasilyevich Syrkin, Maria Igorevna Krasnova, Anna Viktorovna Rudakova, Daria Yuryevna Alexandrova   +11 more
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Methylmalonic acidemia in prenatal diagnosis

Clinical and Experimental Obstetrics & Gynecology, 2020
Objective: The objective of this study was to report the prenatal diagnosis for methylmalonic acidemia. Materials and Methods: Isolated methylmalonic acidemia was diagnosed by analyzing organic acids in the blood and urine.
B.F. Zhou, C.X. Duan, D.L. Tang
doaj   +1 more source

Case report: Is exchange transfusion a possible treatment for metabolic decompensation in neonates with methylmalonic aciduria in the setting of limited resources?

Frontiers in Pediatrics, 2022
Hyperammonemia is a serious complication of methylmalonic acidemia, with high mortality and permanent neurological sequelae in survivors. Primary hospitals are often the first admission hospitals for these children but are limited by their experience and
Xiaoyu Cui, Xiaoyu Cui, Na Li, Hong Xue, Fang Zhang, Jianbo Shu, Jianbo Shu, Yang Liu   +7 more
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Methylmalonic acid levels in serum, exosomes, and urine and its association with cblC type methylmalonic acidemia-induced cognitive impairment

Frontiers in Neurology, 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, Hong Jin, Yu Rong, Wenqi Song, Qiliang Li   +4 more
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Prenatal diagnosis of combined methylmalonic acidemia and homocystinuria cobalamin C type using clinical exome sequencing and targeted gene analysis

Molecular Genetics & Genomic Medicine, 2021
Background Combined methylmalonic acidemia and homocystinuria is a rare inherited disorder of intracellular cobalamin metabolism caused by biallelic variants in one of the following genes: MMACHC (cblC), MMADHC (cblD), LMBRD1 (cblF), ABCD4 (cblJ), THAP11
Narae Hwang, Ja‐Hyun Jang, Eun‐Hae Cho, Rihwa Choi, Suk‐Joo Choi, Hyung‐Doo Park   +5 more
doaj   +1 more source

Persistent pulmonary hypertension of the newborn due to methylmalonic acidemia: a case report and review of the literature

Journal of Medical Case Reports, 2023
Background Persistent pulmonary hypertension of the newborn manifesting with refractory and severe cyanosis is the consequence of high pulmonary vascular resistance causing extrapulmonary right-to-left shunt.
Fariba Hemmati, Hamide Barzegar
doaj   +1 more source