Results 21 to 30 of about 3,232 (144)

Continuous renal replacement therapy in a neonate with methylmalonic acidemia and severe hyperammonemia: A case report. [PDF]

Medicine (Baltimore)
Lin B, Huang Y, Yu Y, Xiong X, Yang C.
europepmc   +2 more sources

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
doaj   +1 more source

Dandy-Walker malformation in methylmalonic acidemia: a rare case report

BMC Pediatrics, 2021
Background Methylmalonic acidemia is an organic acid metabolism disorder that usually has nonspecific clinical manifestations. Case presentation A 3-month-old female infant was admitted to the hospital for developmental retardation.
Jingwei Liu, Zhuohang Liu, Haibo Yan, Yumei Li   +3 more
doaj   +1 more source

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
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
doaj   +1 more source

Hydrocephalus Caused by Methylmalonic Acidemia: Clinical Characteristics, Optimal Timing of Surgical Intervention and Health-Related Quality of Life. [PDF]

Neurosurgery
Zhou F, Huo Y, Li Y, Shen L, Liu L, Yao H, Zhang R, Hou X.   +7 more
europepmc   +2 more sources

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

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

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
doaj   +1 more source

Characterizing the mechanism of action for mRNA therapeutics for the treatment of propionic acidemia, methylmalonic acidemia, and phenylketonuria. [PDF]

Nat Commun
Baek R, Coughlan K, Jiang L, Liang M, Ci L, Singh H, Zhang H, Kaushal N, Rajlic IL, Van L, Dimen R, Cavedon A, Yin L, Rice L, Frassetto A, Guey L, Finn P, Martini PGV.   +17 more
europepmc   +3 more sources