Results 91 to 100 of about 7,812 (191)

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

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

Clinical Outcomes and Correlation With Biochemical Control in Hydroxocobalamin‐Treated Patients With Early‐Onset Cobalamin C Disease

JIMD Reports, Volume 67, Issue 3, May 2026.
ABSTRACT Cobalamin C (cblC) disease is the most common disorder of Vitamin B12 activation. The early‐onset form presents within the first few months of life, with some patients identified through newborn screening (NBS). However, despite early detection and optimal treatment, patient outcomes remain poor, with intellectual impairment and progressive ...
Arthavan Selvanathan, Ashley Hertzog, Jacqui Russell, Rosie Junek, Carolyn Ellaway, Kate Lichkus, Adviye Ayper Tolun, Kaustuv Bhattacharya   +7 more
wiley   +1 more source

Biochemical Pattern of Methylmalonyl-CoA Epimerase Deficiency Identified in Newborn Screening: A Case Report

International Journal of Neonatal Screening
Methylmalonyl-CoA epimerase enzyme (MCEE) is responsible for catalyzing the isomeric conversion between D- and L-methylmalonyl-CoA, an intermediate along the conversion of propionyl-CoA to succinyl-CoA.
Evelina Maines, Roberto Franceschi, Francesca Rivieri, Giovanni Piccoli, Björn Schulte, Jessica Hoffmann, Andrea Bordugo, Giulia Rodella, Francesca Teofoli, Monica Vincenzi, Massimo Soffiati, Marta Camilot   +11 more
doaj   +1 more source

Methylmalonic Acidemia with Novel MUT Gene Mutations [PDF]

, 2017
A 5-year-old boy presented with recurrent episodes of fever, feeding problems, lethargy, from the age of 11 months, and poor weight gain. He was admitted and evaluated for metabolic causes and diagnosed as having methylmalonic acidemia (MMA).
Savita Bhunwal, Harish Varma, Simranjeet Singh, Inusha Panigrahi   +3 more
core   +1 more source

Causes, Types, Symptoms and Diagnosis of Methyl Melonic Acidemia (MMA), Common Symptoms of Methyl Malonic Acid (MMA) and Homocysteine (HMA -HCY0, Differential Diagnosis of Methyl Malonic Acidemia (MMA), Treatment of Methyl Melonyl Acidemia

, 2023
Methylmalonic acidemia (MMA) is a rare inherited metabolic disorder manifested by impaired metabolism of certain amino acids and fatty acids. It occurs by a deficiency of the enzyme methylmalonyl-CoA mutase, which leads to the collection of toxic levels ...
Vinayasree. C, Venkat Naveen. A, Guruprasad. M, Sravani Pragna. K, Amrutham Sandeep, Muralinath. E, Mohan Naidu. K   +6 more
core   +1 more source

Methylmalonic acidemia [PDF]

, 2020
William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop   +3 more
openaire   +2 more sources

Methylmalonic Acidemia: Diagnosis and Neuroimaging Findings of This Neurometabolic Disorder (An Iranian Pediatric Case Series) [PDF]

Objective Methylmalonic acidemia is one of the inborn errors of metabolism resulting in the accumulation of acylcarnitine in blood and increased urinary methylmalonic acid excretion.
کریم زاده, پروانه, جعفری, نرجس, احمدآبادی, فرزاد, جبداری, ساینا   +3 more
core  

Rising Inpatient Demands for Inherited Metabolic Disorders: Impact on Pediatric Capacity

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1423-1426, June 2026.
Maria Paula Silva, Kirsten Havens, Katherine Arduini, Anne Kozek, Erika Vucko, Joel Charrow, Joshua Baker, Carlos E. Prada   +7 more
wiley   +1 more source

Methylmalonic Acidemia with Renal Involvement: A Case Report and Review of Literature

Saudi Journal of Kidney Diseases and Transplantation, 2001
Methylmalonic acidemia (MMA) is an inborn error of metabolism that results in the accumulation in blood, and increased excretion in the urine of, methylmalonic acid.
Srinivas K, Want Mohammed, Freigoun Osama, Balakrishna N   +3 more
doaj