Results 81 to 90 of about 12,610 (204)

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

ACUTE METABOLIC CRISIS TREATMENT PROTOCOL AT METHYLMALONIC ACIDEMIA

Педиатрическая фармакология, 2014
The article is dedicated to a pressing issue of pediatrics — diagnosis and treatment of an autosomal-recessive disease from the group of organic acidemias — methylmalonic acidemia.
S. I. Polyakova, E. A. Roslavtseva, R. F. Tepaev, A. O. Anushenko   +3 more
doaj   +1 more source

Delivery strategies of messenger RNA therapeutics for brain disorders

Bulletin of the Korean Chemical Society, Volume 46, Issue 12, Page 1186-1204, December 2025.
Thus, mRNA therapeutics offer a powerful new avenue for the treatment of brain diseases. This review examines strategies to bypass biological barriers, particularly the blood–brain barrier, and explores emerging delivery systems, such as direct intracerebral injection, intracerebroventricular injection, systemic delivery (including intravenous ...
Kounghwa Youn, Sunmin Oh, Hyunchae Gil, Yongseok Choi, Gyochang Keum, Eun‐Kyoung Bang   +5 more
wiley   +1 more source

Mitochondrial HMG‐CoA Synthase Deficiency Presenting as Pediatric Metabolic Stroke: A Case Report of a Novel Homozygous HMGCS2 (p.Ile56Asn) Variant

Clinical Case Reports, Volume 13, Issue 12, December 2025.
ABSTRACT Mitochondrial HMG‐CoA synthase deficiency should be suspected in infants with hypoketotic hypoglycemia, metabolic acidosis, and basal ganglia lesions. A 2‐year‐old boy with a novel HMGCS2 variant presented with refractory seizures and encephalopathy, highlighting the need for rapid metabolic and genetic evaluation for timely management.
Yasmeen Alshami, Osama Hroub, Mohammad Hroub, Saja Abouodeh, Zahra Makhamre, Ahmad G. Hammouri, Ibrahim Alzatari, Osama Atawneh   +7 more
wiley   +1 more source

Outcomes after newborn screening for propionic and methylmalonic acidemia and homocystinurias

Journal of Inherited Metabolic Disease
The current German newborn screening (NBS) panel includes 13 inherited metabolic diseases (IMDs). In addition, a NBS pilot study in Southwest Germany identifies individuals with propionic acidemia (PA), methylmalonic acidemia (MMA), combined and isolated
Anna T Reischl-Hajiabadi, Elena Schnabel, F. Gleich, Katharina Mengler, Martin Lindner, P. Burgard, Roland Posset, Svenja Lommer-Steinhoff, S. Grünert, E. Thimm, P. Freisinger, Julia B. Hennermann, Johannes Krämer, G. Gramer, Dominic Lenz, S. Christ, F. Hörster, Georg F. Hoffmann, S. Garbade, S. Kölker, Ulrike Mütze   +20 more
semanticscholar   +1 more source

The Evolving Trend of Liver Transplantation in Metabolic Diseases: From Origins to Current Perspectives

Journal of Inherited Metabolic Disease, Volume 48, Issue 6, November 2025.
ABSTRACT Liver transplantation (LTx) has become, over the years, an increasingly used therapeutic option in patients with inherited metabolic diseases (IMD). Initially performed for Tyrosinemia Type I and ornithine transcarbamylase deficiency, it now accounts as the second indication for pediatric transplants worldwide. The use of LTx has been extended
Andrea Pietrobattista, Diego Martinelli, Marco Spada, Carlo Dionisi‐Vici   +3 more
wiley   +1 more source

Propionic Acidemia: Gray Matter Disease Meets Subcortical Leukodystrophy

Journal of Inherited Metabolic Disease, Volume 48, Issue 6, November 2025.
ABSTRACT Imaging literature on propionic acidemia (PA) is predominantly concerned with deep gray matter changes. In order to investigate the spectrum and patterns of MRI changes, 45 MRI scans of 13 patients (0.31–33.2 years) were systematically analyzed. Deep and cortical gray matter changes were associated with acute metabolic decompensation. Striatum
Hannah Fels‐Palesandro, Friederike Hörster, Dorothea Haas, Florian Gleich, Sven F. Garbade, Stefan Kölker, Inga Harting   +6 more
wiley   +1 more source

Rapid screening of MMACHC gene mutations by high‐resolution melting curve analysis

Molecular Genetics & Genomic Medicine, 2020
Background Cobalamin (cbl) C is a treatable rare hereditary disorder of cbl metabolism with autosomal recessive inheritance. It is the most common organic acidemia, manifested as methylmalonic academia combined with homocysteinemia.
Chao Wang, Yang Liu, Fengying Cai, Xinjie Zhang, Xiaowei Xu, Yani Li, Qianqian Zou, Jie Zheng, Yuqin Zhang, Wei Guo, Chunquan Cai, Jianbo Shu   +11 more
doaj   +1 more source

Trial Readiness: Understanding the Natural History of Rare Diseases

Journal of Inherited Metabolic Disease, Volume 48, Issue 6, November 2025.
ABSTRACT Inherited metabolic diseases (IMD) represent the largest and still growing group of treatable genetic disorders and are increasingly amenable to targeted interventions that achieve varying degrees of prognostic improvement. Innovative therapies are on the horizon and offer promising opportunities for disease‐changing treatment for a variety of
Thomas Opladen, Ulrike Mütze, Florian Gleich, Sven F. Garbade, Oya Kuseyri Hübschmann, Matthias Zielonka, Stefan Kölker   +6 more
wiley   +1 more source

Expanded Newborn Screening for Inborn Errors of Metabolism and Genetic Characteristics in a Chinese Population

Frontiers in Genetics, 2018
The incidence of inborn errors of metabolisms (IEMs) varies dramatically in different countries and regions. Expanded newborn screening for IEMs by tandem mass spectrometry (MS/MS) is an efficient approach for early diagnosis and presymptomatic treatment
Kejian Guo, Xuan Zhou, Xuan Zhou, Xigui Chen, Yili Wu, Yili Wu, Yili Wu, Chuanxin Liu, Chuanxin Liu, Qingsheng Kong, Qingsheng Kong   +10 more
doaj   +1 more source