Results 31 to 40 of about 12,176 (132)

Adult-onset combined methylmalonic acidemia and hyperhomocysteinemia, cblC type with aortic dissection and acute kidney injury: a case report. [PDF]

BMC Nephrol
Combined methylmalonic acidemia (MMA) and hyperhomocysteinemia, cobalamin C (cblC) type, also named cblC deficiency is a rare autosomal recessive genetic metabolic disease.
Hao Q, Jiang B, Zhao Y, Hu Z.
europepmc   +2 more sources

Isolated methylmalonic acidemia in Mexico: Genotypic spectrum, report of two novel MMUT variants and a possible synergistic heterozygosity effect. [PDF]

Mol Genet Metab Rep
Fernández-Lainez C, Vela-Amieva M, Reyna-Fabián M, Fernández-Hernández L, Guillén-López S, López-Mejía L, Alcántara-Ortigoza MÁ, González-Del Angel A, Carrillo-Nieto RI, Ortega-Valdez E, Rojas-Maruri M, Ridaura-Sanz C.   +11 more
europepmc   +2 more sources

Neuropsychological endpoints for clinical trials in methylmalonic acidemia and propionic acidemia: A pilot study. [PDF]

Mol Genet Metab Rep, 2023
Chapman KA, MacEachern D, Cox GF, Waller M, Fogarty J, Granger S, Stepanians M, Waisbren S.   +7 more
europepmc   +2 more sources

A regionally adapted HRM-based technique to screen MMACHC carriers for methylmalonic acidemia with homocystinuria in Shandong Province, China.

Intractable & Rare Diseases Research, 2023
Methylmalonic acidemia with homocystinuria (MMA-cblC) is an autosomal recessive genetic disorder of organic acid metabolism. Shandong, a northern province of China, has a significantly high incidence of about 1/4,000, suggesting a high carrying rate ...
Haining Yang, Mian Li, Liang Zou, Hui Zou, Yan Zhao, Yazhou Cui, Jinxiang Han   +6 more
semanticscholar   +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

Biochemical Testing Promotes Interpretation of Variants of Uncertain Significance in Prenatal Genetic Disease Testing in Four Organic Acidurias

Clinical Genetics, EarlyView.
This review demonstrates how amniotic fluid biochemical testing provides critical phenotypic evidence (ACMG PP4) for reclassifying variants of uncertain significance (VUS) in prenatal organic acidurias. Integrating metabolite analysis with genetic testing enhances diagnostic accuracy and enables informed clinical decisions for affected families ...
Kaili Yin, Qingwei Qi
wiley   +1 more source

CLINICAL CASE OF METHYLMALONIC ACIDEMIA

Baikal Medical Journal, 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 ...
E. A. Tkachuk, D. M. Barykova, Y. S. Livadarova, I. Seminsky, T. A. Astakhova, E. G. Osipova, Y. V. Mikhelsone, T. Y. Dorofeeva, Nikolay Vasilyevich Syrkin, Maria Igorevna Krasnova, A. Rudakova, Daria Yuryevna Alexandrova   +11 more
semanticscholar   +1 more source

Hcfc1 and Ogt Mediate Zebrafish CNS Regeneration Through Hippo/Yap Signalling

Cell Proliferation, EarlyView.
This work identifies Hcfc1 and Ogt as key regulators of zebrafish CNS regeneration through modulation of Hippo/Yap signalling. Loss of Hcfc1 or Ogt activity inhibition impairs regeneration, which is restored by Yap overexpression, revealing a new regulatory axis that enhances CNS regenerative capacity.
Priyanka P. Srivastava, Sidharth Bhasin, Poonam Sharma, Omkar Mahadeo Desai, Kshitiz Yadav, Ayushma, Rohan Chakraborty, Suhel Parvez, Rajesh Ramachandran, Shilpi Minocha   +9 more
wiley   +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