Results 81 to 90 of about 12,046 (150)

Human Milk Feeding in Inherited Metabolic Disorders: A Systematic Review of Growth, Metabolic Control, and Neurodevelopment Outcomes

Journal of Inherited Metabolic Disease, Volume 48, Issue 2, March 2025.
ABSTRACT Human milk (HM) is the optimal source of nutrition for infants. Yet the suitability of HM macronutrient composition, paired with the challenge of regulating HM intake, may deserve some consideration for infants with inherited metabolic disorders (IMDs) requiring restrictive and controlled dietary management. Except for classic galactosemia, HM
Fatma Ilgaz, Alexander Höller, Cyril Marsaux, Sandra Banta‐Wright, Turgay Coşkun, Kelly A. Dingess, Monika Jörg‐Streller, Camille Newby, Rani Singh, Bernd Stahl, Clare Szwec, Annemiek van Wegberg, Willie Woestenenk, Anita MacDonald, Daniela Karall   +14 more
wiley   +1 more source

A case series of Cypriot patients with CblC defect: Clinical, biochemical and molecular characteristics

Molecular Genetics and Metabolism Reports
Methylmalonic aciduria and homocystinuria, CblC type, is an inborn error of intracellular vitamin B12 (cobalamin) metabolism caused, in the majority of cases, by mutations in the MMACHC gene.
Theodoros Georgiou, Olga Grafakou, Anna Malekkou, Emilia Athanasiou, Ioannis Ioannou, Vivi Choleva, Maria Dionysiou, Gabriella Mavrikiou, Anthi Demetriadou, Violetta Anastasiadou, Anthi Drousiotou, Petros P. Petrou   +11 more
doaj   +1 more source

Emergency Management of Intoxication‐Type Inherited Metabolic Disorders

Journal of Inherited Metabolic Disease, Volume 48, Issue 2, March 2025.
ABSTRACT In many intoxication‐type inherited metabolic disorders, the accumulation of the toxic chemical can cause acute life‐threatening emergencies. Sometimes this is the inevitable consequence of a severe metabolic defect, but it is often triggered by catabolism.
J. Dexter Tarr, Andrew A. M. Morris
wiley   +1 more source

Prenatal diagnosis of methymalonic aciduria and homocystinuria cblC type using DNA analysis

Journal of Pediatric and Neonatal Individualized Medicine, 2015
Methylmalonic aciduria (MMA) and homocystinuria, cblC type is the most frequent inborn error of vitamin B12. CblC patients present with a heterogeneous clinical picture.
Antonietta Zappu, Simona Incollu, Francesca Chiappe, Maria Barbara Lepori, Georgios Loudianos   +4 more
doaj   +1 more source

Homocystinuria without methylmalonic aciduria [PDF]

, 2020
Inserm
openalex   +1 more source

Combined Newborn Screening Allows Comprehensive Identification also of Attenuated Phenotypes for Methylmalonic Acidurias and Homocystinuria [PDF]

, 2023
Elena Schnabel‐Besson, Stefan Kölker, Florian Gleich, Patrik Feyh, Friederike Hörster, Dorothea Haas, Junmin Fang‐Hoffmann, Marina Morath, Gwendolyn Gramer, Wulf Röschinger, Sven F. Garbade, Georg F. Hoffmann, Jürgen G. Okun, Ulrike Mütze   +13 more
openalex   +1 more source

Cobalamin C defect: a patient of late-onset type with homozygous p.R132* mutation

The Turkish Journal of Pediatrics, 2013
Methylmalonic aciduria and homocystinuria, cobalamin C (cblC) type, is the most frequent inborn error of vitamin B12metabolism. The clinical phenotype includes systemic symptoms and neurological decompensation.
Mustafa Kılıç, Rıza Köksal Özgül, Ali Dursun, Ayşegül Tokatlı, Hatice Serap Kalkanoğlu-Sivri, Banu Anlar, Brian Fowler, Turgay Coşkun   +7 more
doaj  

Metabolic phenotype of methylmalonic acidemia in mice and humans: the role of skeletal muscle

BMC Medical Genetics, 2007
Background Mutations in methylmalonyl-CoA mutase cause methylmalonic acidemia, a common organic aciduria. Current treatment regimens rely on dietary management and, in severely affected patients, liver or combined liver-kidney transplantation.
Kaestner Klaus H, Allen Robert, Stabler Sally, Tsai Matthew, Fu Hong, Sloan Jennifer, Chandler Randy J, Kazazian Haig H, Venditti Charles P   +8 more
doaj   +1 more source

Molecular studies in mutase-deficient (MUT) methylmalonic aciduria: identification of five novel mutations [PDF]

, 2002
Heidi Peters, Mikhael Nefedov, Lai Wah Lee, José E. Abdenur, Néstor Chamoles, Stephen G. Kahler, Panayiotis A. Ioannou   +6 more
openalex   +1 more source

Methylmalonic Aciduria, cblB Type [PDF]

, 2020
National Cancer Institute
openalex   +1 more source