Ketogenic diet in action: Metabolic profiling of pyruvate dehydrogenase deficiency
Molecular Genetics and Metabolism Reports, 2023 The pyruvate dehydrogenase complex serves as the main connection between cytosolic glycolysis and the tricarboxylic acid cycle within mitochondria. An infant with pyruvate dehydrogenase complex deficiency was treated with vitamin B1 supplementation and a
Eri Ogawa +6 more
doaj +1 more source
The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders [PDF]
, 2016 INTRODUCTION: Neurotransmitters are chemical messengers that enable communication between the neurons in the synaptic cleft. Inborn errors of neurotransmitter biosynthesis, breakdown and transport are a group of very rare neurometabolic diseases ...
Cortès-Saladelafont, Elisenda +17 more
core +4 more sources
Non-Enzymatic Formation of N-acetylated Amino Acid Conjugates in Urine
Applied Sciences, 2023 Unknown N-acylated amino acid (N-AAA) conjugates have been detected in maple syrup urine disease (MSUD) and other inborn errors of metabolism (IEMs). This study aimed to elucidate the mechanism behind the formation of urinary N-AAA conjugates.
Jano Jacobs +5 more
doaj +1 more source
Journal of Inherited Metabolic Disease, 2020 This study provides a general overview on liver and/or kidney transplantation in patients with an amino and organic acid‐related disorder (AOA) with the aim to investigate patient characteristics and global outcome in Europe. This study was an initiative
F. Molema +7 more
semanticscholar +1 more source
Association of maternal biliary disease with hepatopancreatobiliary morbidity in offspring. [PDF]
J Pediatr Gastroenterol NutrAbstract Objectives Maternal biliary disease is common, but the link with offspring hepatopancreatobiliary disease has not been studied. We assessed the association between maternal biliary disease and pediatric hepatopancreatobiliary morbidity. Methods We conducted a retrospective cohort study of 1,271,864 children born between 2006 and 2022 in Quebec,
Auger N +6 more
europepmc +2 more sources
Cystathionine beta synthase deficiency and brain edema associated with methionine excess under betaine supplementation: Four new cases and a review of the evidence. [PDF]
, 2020 CBS deficient individuals undergoing betaine supplementation without sufficient dietary methionine restriction can develop severe hypermethioninemia and brain edema. Brain edema has also been observed in individuals with severe hypermethioninemia without
Barea, Jaime J +10 more
core +1 more source
Fifteen years experience: Egyptian metabolic lab
Egyptian Journal of Medical Human Genetics, 2014 Background: Inborn errors of metabolism (IEM) are single gene disorders responsible for abnormalities in the synthesis or catabolism of proteins, carbohydrates and fats by means of defective enzymes or transport proteins which results in a block of the ...
Ekram M. Fateen +3 more
doaj +1 more source
Out-of-pocket health expenditures in patients living with ınborn errors of metabolism
Orphanet Journal of Rare Diseases, 2023 Aim The implementation of newborn screening programs for inborn errors of metabolism has advanced the diagnosis and management of affected infants and undoubtedly improved their outcomes.
Mehmet Gündüz +2 more
doaj +1 more source
Holocarboxylase Synthetase Deficiency: A Second Case Report With Neonatal Cholestatic Liver Disease. [PDF]
JIMD RepABSTRACT Holocarboxylase synthetase deficiency is an autosomal recessive inborn error of metabolism characterised by life‐threatening metabolic acidosis, ketoacidosis and hyperammonaemia through reduced biotin‐dependent carboxylase activity. We report the presentation of a Polynesian neonate with severe metabolic acidosis secondary to holocarboxylase ...
Manoy S +9 more
europepmc +2 more sources
Inborn errors of metabolism: a clinical overview [PDF]
, 1999 CONTEXT: Inborn errors of metabolism cause hereditary metabolic diseases (HMD) and classically they result from the lack of activity of one or more specific enzymes or defects in the transportation of proteins.
Martins, Ana Maria
core +4 more sources