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A case of holocarboxylase synthetase deficiency with insufficient response to prenatal biotin therapy.

Holocarboxylase synthetase (HCS) deficiency is an inborn error of biotin metabolism, leading to a multiple carboxylases deficiency. As the affected fetus sometimes presents with enlargement of the cerebral ventricles and intrauterine growth retardation (IUGR), prenatal administration of biotin has been attempted in some pregnancies. We present herein the case of a Japanese neonate with HCS deficiency who received maternal administration of biotin (10mg/day) from 33 weeks' gestation. After biotin administration, the fetal body weight increased and gestation was continued to full term. However,

Correlation between seminal carnitine and functional spermatozoal characteristics in men with semen dysfunction of various origins.

von Willebrand disease (vWD) is a single-locus disorder resulting from a deficiency of von Willebrand factor (vWF): a multimeric multifunctional protein involved in platelet adhesion and platelet-to-platelet cohesion in high shear stress vessels, and in protecting from proteolysis and directing circulating factor VIII (FVIII) to the site of injury. vWD is the most frequent bleeding disorder, with an estimated prevalence in the general population of 1%. Almost all these cases are represented by a partial quantitative deficiency of von Willebrand factor (vWF) (type 1 vWD). Type 1 is transmitted

Perioperative Metabolomic Profiling in Neonatal Cardiac Surgery Identifies a High-Risk Phenotype for Adverse Outcomes.

BACKGROUND: Neonatal cardiac surgery is associated with high morbidity and mortality. Perioperative metabolic stress may result in distinct … w-risk phenotype demonstrated higher post-CPB cystine and greater pre/post ratios of galactitol and acetylcarnitine, consistent with preserved redox balance and fatty acid oxidation. Multiple comparison adjustments confirmed associations between these metabolic pathways and clinical outcomes. CONCLUSIONS: Metabolomic profiling identified phenotypes associated wi …

Импайримент митохондрий скелетных мышц у пациентов с новой диагностированной множественной склерозом, выявленный ¹H/³¹P магнитно-резонансной спектроскопией.

Нарушение функции митохондрий участвует в патофизиологии множественной скlerоза (МС) и может способствовать его усталости и слабости мышц. Являются ли метаболические изменения скелетных мышц присутствующими на этапе начала заболевания — неясно. В этой наблюдательной изученной парой случаев и контрольной группы мы исследовали метаболизм мышц и его связь с системными метаболическими показателями у новых пациентов с МС (ПМС), не подвергшихся лечению, и соответствующих здоровых контрольных групп. Метаболизм гастроцинемия оценивался с помощью статической и динамической 7 Т 1H/31P магнитно-резонансн

Совпадение в аннотации оригинала
Mitochondrial dysfunction is implicated in the pathophysiology of multiple sclerosis (MS) and may contribute to its fatigue and muscle weakn … ucose, insulin, and GLP-1. Static MRS revealed lower carnosine (p = 0.044) and a trend toward lower acetylcarnitine in PwMS. Dynamic ³¹P-MRS showed elevated pre-exercise inorganic phosphate (Pi; p = 0.012), trend toward reduced PCr/Pi ratio, and prolonged PCr recovery (p = 0.031) in PwMS. PwMS also had reduced GLP-1 response during OGTT (p = 0.032) despite preser …

Nutritional status and extended metabolic screening in Egyptian children with uncomplicated type 1 diabetes.

Nutritional status assessment, including amino acids, carnitine, and acylcarnitine profile, is an important component of diabetes care manag … Phenylalanine, Citrulline, Tyrosine, Arginine, Proline, free carnitine, and some carnitine esters (Acetylcarnitine, Hydroxy-Isovalerylcarnitine, Hexanoylcarnitine, Methylglutarylcarnitine, Dodecanoylcarnitine, Tetradecanoylcarnitine, and Hexadecanoylcarnitine). HbA1c% had a significant negative correlation with Total aromatic amino acids, Branched-chain amino ac …

Preliminary exploration of metabolomics mechanisms in patients with patent foramen ovale and migraine.

This study aimed to investigate the metabolic mechanisms underlying the combination of patent foramen ovale (PFO) and migraine by assessing … significant differences in serum metabolites, including dopamine, L-proline, L-tyrosine, D-proline, acetylcarnitine, and dulcitol, between PFO migraine patients and healthy controls based on Liquid Chromatography-Mass Spectrometry (LC-MS) non-targeted metabolomics analysis. Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway analysis of these metabolites revea …

Metabolic profiling of psoriasis vulgaris and palmoplantar pustulosis.

Psoriasis is a chronic inflammatory skin disorder with various subtypes, including psoriasis vulgaris (PV) and palmoplantar pustulosis (PPP) … oline, aspartic acid, tyrosine, taurine, spermine and ornithine, but exhibited a decreased level of acetylcarnitine than matched HVs. Notably, sarcosine levels were significantly elevated in PPP patients. Furthermore, the sarcosine/glycine ratio was significantly higher in both PV and PPP patients than in HVs. Pathway analysis showed significant increases in meta …

Distinct serum metabolomic signatures of multiparous and primiparous dairy cows switched from a moderate to high-grain diet during early lactation.

INTRODUCTION: Feeding of high-grain diets is common in cows during early lactation, but increases the odds of metabolic derailments, which c … and feeding phase. Data were analysed using different data mining approaches. RESULTS: Carnitine, acetylcarnitine, propionoylcarnitine, amino acid related compounds cis-4-hydroxyproline, trans-4-hydroxyproline, proline betaine, lysophosphatidylcholine PC a C16:1 and phosphatidylcholine PC ae C36:0 were identified as the key metabolites distinguishing MP from PP …

An integrated meta-analysis of peripheral blood metabolites and biological functions in major depressive disorder.

Major depressive disorder (MDD) is a serious mental illness, characterized by high morbidity, which has increased in recent decades. However … roxybutyric acid, phosphatidylcholine (32:1), and taurochenodesoxycholic acid and lower levels of L-acetylcarnitine, creatinine, L-asparagine, L-glutamine, linoleic acid, pyruvic acid, palmitoleic acid, L-serine, oleic acid, myo-inositol, dodecanoic acid, L-methionine, hypoxanthine, palmitic acid, L-tryptophan, kynurenic acid, taurine, and 25-hydroxyvitamin D com …

Perinatal free carnitine and short chain acylcarnitine blood concentrations in 12,000 full-term breastfed newborns in relation to their birth weight.

BACKGROUND: Free carnitine (C0) and short chain acylcarnitine (SCA) blood concentrations play a significant role in fatty acid oxidation pro … be statistically significantly higher in group A (BW 2000-2500 g) in both males and females. Lower acetylcarnitine (C2) and hydroxybutyrylcarnitine (C4OH) blood concentrations were detected in group A of both sexes, whereas butyrylcarnitine (C4) concentrations were found to be lower in the same group of males only. Furthermore, high concentrations of C2 and C4OH …

Risk of gestational diabetes mellitus in relation to plasma concentrations of amino acids and acylcarnitines: A nested case-control study.

AIMS: Gestational diabetes mellitus (GDM) affects between 5 and 10% of all pregnancies in Canada and can lead to adverse health outcomes in … s were 0.25 (0.08-0.79) for butyrylcarnitine, 0.31 (0.12-0.79) for glutamic acid, 2.5 (1.2-5.3) for acetylcarnitine, 2.9 (1.3-6.8) for isobutyrylcarnitine and 5.3 (1.7-17.0) for leucine. These five metabolites were selected by stepwise conditional logistic regression to create a predictive model with an OR of 2.7 (1.5-4.9). CONCLUSION: Whether the identified met …

Metabolic reprogramming of the urea cycle pathway in experimental pulmonary arterial hypertension rats induced by monocrotaline.

BACKGROUND: Pulmonary arterial hypertension (PAH) is a rare systemic disorder associated with considerable metabolic dysfunction. Although e … ate, urea, 4-hydroxy-proline, ornithine, N-acetylornithine, and two candidate biomarkers, namely, O-acetylcarnitine and betaine, were found to be highly correlated with PAH. CONCLUSION: The present study suggests a new role of urea cycle disruption in the pathogenesis of PAH. We also found five urea cycle related biomarkers and another two candidate biomarkers t …

Plasma amino acid levels are elevated in young, healthy low birth weight men exposed to short-term high-fat overfeeding.

Low birth weight (LBW) individuals exhibit a disproportionately increased, incomplete fatty acid oxidation and a decreased glucose oxidation … aired insulin sensitivity. Furthermore, the alanine level was negatively associated with the plasma acetylcarnitine level and positively associated with the hepatic glucose production after overfeeding. Thus, the higher alanine level in LBW men could be accompanied by an increased anaplerotic formation of oxaloacetate and thereby an enhanced tricarboxylic acid cy …

Carnitine supplementation alleviates lipid metabolism derangements and protects against oxidative stress in non-obese hereditary hypertriglyceridemic rats.

The aim of this study was to estimate the effect of carnitine supplementation on lipid disorders and peripheral tissue insulin sensitivity i … nd blood. Carnitine supplementation compensated for this shortage and promoted urinary excretion of acetylcarnitine without any signs of (acyl)carnitine accumulation in skeletal muscle. Compared with their untreated littermates, carnitine-treated HHTg rats exhibited lower weight gain, reduced liver steatosis, lower fasting triglyceridemia, and greater reduction o …

Synergistic Effects of Acetyl-l-Carnitine and Adipose-Derived Stromal Cells on Improving Regenerative Capacity of Acellular Nerve Allograft in Sciatic Nerve Defect.

The combination of decellularized nerve allograft and adipose-derived stromal cells (ASCs) represents a good alternative to nerve autograft for bridging peripheral nerve defects by providing physical guidance and biologic cues. However, the regeneration outcome of acellular nerve allograft (ANA) is often inferior to autograft. Therefore, we hypothesized that acetyl-l-carnitine (ALCAR) treatment and implantation of ASC-embedded ANA would work synergistically to promote nerve regeneration. Seventy rats were randomly allocated into seven experimental groups (n = 10), including the healthy control

[Using L- and acetyl-L-carnintines in combination with clomiphene citrate and antioxidant complex for treating idiopathic male infertility: a prospective randomized trial].

UNLABELLED: The most common cause of male infertility is idiopathic oligo-, and or astheno-, and /or teratozoospermia. In such cases, anti-estrogens, antioxidants (vitamins and trace elements) or carnitines are used, but the evidence on their effectiveness is inconsistent; there are currently no published studies exploring their concurrent use. AIM: To investigate the efficacy and safety of the L- and acetyl-L-carnitine complex, vitamins A, E, C, selenium, zinc and other antioxidants ("SpermActin" + "More than vitamins") in combination with clomiphene citrate (CC) in managing male idiopathic

Neurophysiological and morphological responses to treatment with acetyl-L-carnitine in a sciatic nerve injury model: preliminary data.

We investigated the effects of acetyl-L-carnitine (ALCAR) on the recovery of sciatic nerve injuries in rats. Sprague Dawley rats were randomized to two groups: ALCAR treated (for 14 days) and control. Each group was divided into three subgroups: distal transection, proximal transection, and grafted. Distal latencies, amplitudes, and motor nerve conduction velocities were measured. In the third month, biopsies were taken and examined under light microscopy. Electrophysiological measurements demonstrated that regeneration occurred earlier and was better in the ALCAR group, particularly in the di

[Roles of PYK2 and caveolin-1 in alcoholic cardiomyopathy and the effect of drug intervention].

OBJECTIVE: To explore the protein expressions of PYK2 (protein-rich tyrosine kinase-2) and caveolin-1 in alcoholic cardiomyopathy (ACM) dog model and the effect of early drug intervention. METHODS: A total of 28 adult dogs were randomly divided into 4 groups: (i): alcohol-fed; (ii): alcohol plus valsartan, an angiotensin receptor blocker (ARB); (iii): alcohol plus carnitine; (iv): control group. At Month 6, the cardiac functions of all animals were evaluated by echocardiography. The concentrations of superoxide dismutase (SOD), glutathione peroxidase (GSH-Px) and malondialdehyde (MDA) in card

Bioenergetic approaches for neuroprotection in Parkinson's disease.

There is considerable evidence suggesting that mitochondrial dysfunction and oxidative damage may play a role in the pathogenesis of Parkinson's disease (PD). This possibility has been strengthened by recent studies in animal models, which have shown that a selective inhibitor of complex I of the electron transport gene can produce an animal model that closely mimics both the biochemical and histopathological findings of PD. Several agents are available that can modulate cellular energy metabolism and that may exert antioxidative effects. There is substantial evidence that mitochondria are a m

Comparison of metabolites in rumen fluid, urine, and feces of dairy cow from subacute ruminal acidosis model measured by proton nuclear magnetic resonance spectroscopy.

OBJECTIVE: In this study, metabolites that changed in the rumen fluid, urine and feces of dairy cows fed different feed ratios were investig … changes, research on different metabolites such as glucuronate, acetylsalicylate, histidine, and O-Acetylcarnitine, which are related to bacterial degradation and metabolism, will need to be carried out in future studies along with microbial analysis. In urine, the identified metabolites, such as gallate, syringate, and vanillate can provide insight into microbi …