scholarly journals Severe anemia in patients with Propionic acidemia is associated with branched-chain amino acid imbalance

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Sinziana Stanescu ◽  
Amaya Belanger-Quintana ◽  
Borja Manuel Fernandez-Felix ◽  
Francisco Arrieta ◽  
Victor Quintero ◽  
...  
Keyword(s):  
Amino Acids ◽  
Food Consumption ◽  
Protein Intake ◽  
Propionic Acidemia ◽  
Study Data ◽  
Metabolic Decompensation ◽  
Severe Anemia ◽  
Medical Food ◽  
Natural Protein ◽  
Branched Chain

Abstract Background Propionic acidemia (PA), an inborn error of metabolism, is caused by a deficiency in propionyl-CoA carboxylase. Patients have to follow a diet restricted in the propiogenic amino acids isoleucine (Ile), valine (Val), methionine (Met) and threonine (Thr); proper adherence can prevent and treat acute decompensation and increase life expectancy. However, chronic complications occur in several organs even though metabolic control may be largely maintained. Bone marrow aplasia and anemia are among the more common. Materials and methods In this retrospective study, data for patients with PA being monitored at the Hospital Ramón y Cajal (Madrid, Spain) (n = 10) in the past 10 years were examined to statistically detect relationships between persistent severe anemia outside of metabolic decompensation episodes and dietary practices such as natural protein intake and medical food consumption (special mixture of precursor-free amino acids) along with plasma levels of branched-chain amino acids (BCAA). High ferritin levels were deemed to indicate that a patient had received repeated transfusions for persistent anemia since data on hemoglobin levels at the moment of transfusion were not always passed on by the attending centers. Results Three patients had severe, persistent anemia that required repeated blood transfusions. Higher medical food consumption and plasma Leu levels were associated with iron overload. Notably, natural protein intake and plasma Val were negatively correlated with ferritin levels. We also observed an inverse relationship between plasma Val/Leu and Ile/Leu ratios and ferritin. Conclusion The present results suggest that severe anemia in patients with PA might be associated with low natural protein intake and BCAA imbalance.

scholarly journals Severe Anemia in Patients with Propionic Acidemia is Associated with Low Plasma Levels of Valine, Isoleucine and Methionine

2020 ◽  
Author(s):  
Sinziana Stanescu ◽  
Amaya Belanger-Quintana ◽  
Victor Quintero ◽  
Maria Soledad Maldonado ◽  
Francisco Arrieta ◽  
...  
Keyword(s):  
Amino Acids ◽  
Plasma Levels ◽  
Propionic Acidemia ◽  
Study Data ◽  
Metabolic Decompensation ◽  
Severe Anemia ◽  
Chronic Complications ◽  
Acute Decompensation ◽  
Odd Chain Fatty Acids ◽  
The Moment

Abstract Background. Propionic acidemia (AP), an inborn error of metabolism, is caused by a deficiency in propionyl-CoA carboxylase. Patients have to follow a diet restricted in the propiogenic amino acids isoleucine (Iso), valine (Val), methionine (Met) and threonine (Thr); proper adherence can prevent and treat acute decompensation and increase life expectancy. However, chronic complications occur in several organs even though metabolic control may be largely maintained. Bone marrow aplasia and cytopenia are among the more common. Materials and methods. In this retrospective study, data for patients with PA being monitored at the Hospital Ramón y Cajal (Madrid, Spain) (n=10) were examined to statistically detect relationships between hematological complications outside of metabolic decompensation episodes, and plasma amino acids provided by the diet, urinary organic acids and plasma odd-chain fatty acids. High ferritin levels were deemed to indicate that a patient had received repeated transfusions for severe anemia since data on hemoglobin levels at the moment of transfusion were not always passed on by the attending centers. Results. Three patients had severe, persistent anemia that required repeated blood transfusions leading to high ferritin levels. Their low plasma Val, Ile and Met suggested that their anemia had a nutritional component. Conclusion. The present results suggest that severe anemia in patients with PA is associated with low plasma levels of Val, Ile and Met.

Food consumption of branched chain amino acids and insulin resistance: A systematic review of observational studies in humans

2020 ◽  
Vol 40 ◽  
pp. 277-281
Author(s):  
Eduardo Emanuel Sátiro Vieira ◽  
Irislene Costa Pereira ◽  
Amanda Ferraz Braz ◽  
Marcus Vinicius Nascimento-Ferreira ◽  
Lucillia Rabelo de Oliveira Torres ◽  
...  
Keyword(s):  
Systematic Review ◽  
Insulin Resistance ◽  
Amino Acids ◽  
Food Consumption ◽  
Observational Studies ◽  
Branched Chain Amino Acids ◽  
Branched Chain

scholarly journals Skin Lesions Associated with Dietary Management of Maple Syrup Urine Disease: a Case Report

2015 ◽  
Vol 7 (4) ◽  
pp. 153-162 ◽  
Author(s):  
Jana Kazandjieva ◽  
Dimitrina Guleva ◽  
Assia Nikolova ◽  
Sonya Márina
Keyword(s):  
Amino Acids ◽  
Amino Acid ◽  
Maple Syrup Urine Disease ◽  
Skin Lesions ◽  
Branched Chain Amino Acids ◽  
Acrodermatitis Enteropathica ◽  
Metabolic Decompensation ◽  
Maple Syrup ◽  
Urine Disease ◽  
Branched Chain

Abstract Leucinosis (maple syrup urine disease - MSUD) is an inherited aminoacidopathy and organic aciduria caused by severe enzyme defect in the metabolic pathway of amino acids: leucine, isoleucine, and valine. The classical variant of the disease is characterized by accumulation of both amino and α-keto acids, particulary the most toxic rapid elevation of circulating leucine and its ketoacid, α-ketoisocaproate, which cause encephalopathy and life-threatening brain swelling. However, patients with the most severe form, classical maple syrup urine disease, may appear normal at birth, but develop acute metabolic decompensation within the first weeks of life with typical symptoms: poor feeding, vomiting, poor weight gain, somnolence and burnt sugar-smelling urine, reminiscent of maple syrup. Early diagnosis and dietary intervention improve the patient’s condition, prevent severe complications, and may allow normal intellectual development. We present a 4-month old infant with leucinosis dignosed 3 months earlier, due to elevated levels of amino acids: leucine, isoleucine and valine. The patient was full-term neonate with an uncomplecated delivery, without any family history of metabolic disorder or consanguinity. The infant was referred to a dermatologist, because of maculopapular exanthema on the scalp, trunk, upper and lower extremities, and exfoliative dermatitis of the perioral, particularly anogenital regions, associated with diarrhea. Skin involvement was associated with poor general condition of the infant exhibiting severe hypotension, anemic syndrome, dyspepsia and neurological symptoms. Exanthema developed a few days after the initiation of nutritional therapy for MSUD: isoleucine-, leucine-, and valine-free powdered medical food (MSUD-2) supplemented with iron. Zink levels were within normal ranges. Rapid skin improvement occurred after adequate branched-chain amino acids supplementation was commenced under regular laboratory control (normal zinc serum level with deficiencies of leucine and valine), skin hygiene with antiseptics, emollients and low potent topical corticosteroids. Treatment of acute metabolic decompensation and dietary restriction of branched-chain amino acids are the main aspects in the management of maple syrup urine disease. Common findings in patients with MSUD include: plasma amino acid imbalance, particularly of essential amino acids, failure to thrive attributed to restriction of particular precursor amino acids and natural proteins, micronutrient deficiencies or higher energy requirement due to chronic illness or inflammation. Due to low intake of branched-chain amino acids, some patients develop skin lesions known as acrodermatitis enteropathica-like syndrome. Here we report a case of an infant who developed acrodermatitis enteropathica-like skin eruptions due to branched-chain amino acid deficiency during treatment of maple syrup urine disease. According to available world literature, this is the first report of acrodermatitis enteropathica-like syndrome in an infant with maple syrup urine disease (leucinosis) in the Republic of Bulgaria.

scholarly journals Altered Dairy Protein Intake Does Not Alter Circulatory Branched Chain Amino Acids in Healthy Adults: A Randomized Controlled Trial

Nutrients ◽  
2018 ◽  
Vol 10 (10) ◽  
pp. 1510 ◽  
Author(s):  
Utpal Prodhan ◽  
Amber Milan ◽  
Eric Thorstensen ◽  
Matthew Barnett ◽  
Ralph Stewart ◽  
...  
Keyword(s):  
Amino Acids ◽  
Insulin Sensitivity ◽  
Protein Intake ◽  
Branched Chain Amino Acids ◽  
Healthy Adults ◽  
Model Assessment ◽  
Dairy Intake ◽  
Branched Chain ◽  
Dairy Protein ◽  
The Impact

Dairy, as a major component of a high protein diet, is a critical dietary source of branched chain amino acids (BCAA), which are biomarkers of health and diseases. While BCAA are known to be key stimulators of protein synthesis, elevated circulatory BCAA is an independent risk factor for type 2 diabetes mellitus. This study examined the impact of altered dairy intake on plasma BCAA and their potential relationship to insulin sensitivity. Healthy adults (n = 102) were randomized to receive dietary advice to reduce, maintain, or increase habitual dairy intake for 1 month. Food intake was recorded with food frequency questionnaires. Self-reported protein intake from dairy was reported to be reduced (−14.6 ± 3.0 g/day), maintained (−4.0 ± 2.0 g/day) or increased (+13.8 ± 4.1 g/day) according to group allocation. No significant alterations in circulating free amino acids (AA), including BCAA, were measured. Insulin sensitivity, as assessed by homeostatic model assessment-insulin resistance (HOMA-IR), was also unaltered. A significant change in dairy protein intake showed no significant effect on fasting circulatory BCAA and insulin sensitivity in healthy populations.

scholarly journals Dose-dependent increases in p70S6K phosphorylation and intramuscular branched-chain amino acids in older men following resistance exercise and protein intake

2014 ◽  
Vol 2 (8) ◽  
pp. e12112 ◽  
Author(s):  
Randall F. D'Souza ◽  
James F. Markworth ◽  
Vandre C. Figueiredo ◽  
Paul A. Della Gatta ◽  
Aaron C. Petersen ◽  
...  
Keyword(s):  
Amino Acids ◽  
Resistance Exercise ◽  
Protein Intake ◽  
Older Men ◽  
Branched Chain Amino Acids ◽  
Branched Chain ◽  
Dose Dependent

scholarly journals Acidosis propiónica, enfermedad metabólica rara con manejo anestésico peculiar.

2020 ◽  
Vol 12 (5) ◽  
pp. 3
Author(s):  
Jesús David Rubio López ◽  
Rafael Muñoz Martínez
Keyword(s):  
Metabolic Disease ◽  
Amino Acids ◽  
Fatty Acids ◽  
Rare Disease ◽  
Anesthetic Management ◽  
Propionic Acidemia ◽  
Branched Chain Amino Acids ◽  
Branched Chain ◽  
Severity Of The Disease

La Acidosis Propiónica es una enfermedad metabólica mitocondrial que afecta al catabolismo de los ácidos grasos, colesterol y los aminoácidos de cadena ramificada a causa de un déficit enzimático. No existe una correlación del genotipo con la severidad de la enfermedad. Es considerada como una enfermedad rara, aunque su incidencia es variable, y dentro de los errores del metabolismo es de los más frecuentes. En el contexto de un paciente con esta patología que va a requerir ser anestesiado en varias ocasiones procedemos a la revisión de la fisiopatología de la enfermedad, sus complicaciones e investigar en las implicaciones anestésicas del manejo anestésico futuro. ABSTRACT Propionic acidemia, unusual metabolic disease with special anesthesic work. Propionic Acidemia is a mitochondrial metabolic disease that affects the catabolism of fatty acids, cholesterol and branched chain amino acids due to an enzymatic deficit. There is no correlation of the genotype with the severity of the disease. It is considered a rare disease, although its incidence is variable, and within the errors of metabolism is the most frequent. In the context of a patient with this pathology who needs to be anesthetized several times, we proceed to review the pathophysiology of the disease, its complications and investigate the anesthetic implications of future anesthetic management.

scholarly journals An internal sensor detects dietary amino acids and promotes food consumption in Drosophila

2017 ◽  
Author(s):  
Zhe Yang ◽  
Rui Huang ◽  
Xin Fu ◽  
Gaohang Wang ◽  
Wei Qi ◽  
...  
Keyword(s):  
Amino Acids ◽  
Amino Acid ◽  
Food Consumption ◽  
Protein Intake ◽  
Fruit Fly ◽  
Fruit Flies ◽  
Food Sources ◽  
Dietary Amino Acids ◽  
Necessary And Sufficient ◽  
Amino Acid Sensor

ABSTRACTAdequate protein intake is crucial for animals. Despite the recent progress in understanding protein hunger and satiety in the fruit fly Drosophila melanogaster, how fruit flies assess prospective dietary protein sources and ensure protein consumption remains elusive. We show here that three specific amino acids, L-glutamate (L-Glu), L-alanine (L-Ala), and L-aspartate (L-Asp), rapidly promote food consumption in fruit flies when present in food. The effect of dietary amino acids to promote food consumption is independent of mating experience and internal nutritional status. Genetic analysis identifies six brain neurons expressing diuretic hormone 44 (DH44) as a sensor of dietary amino acids. DH44+ neurons can be directly activated by these three amino acids, and are both necessary and sufficient for dietary amino acids to promote food consumption. By conducting single cell RNAseq analysis, we also identify an amino acid transporter, CG13248, which is highly expressed in DH44+ neurons and is required for dietary amino acids to promote food consumption. Therefore, these data suggest that dietary amino acids may enter DH44+ neurons via CG13248 and modulate their activity and hence food consumption. Taken together, these data identify an internal amino acid sensor in the fly brain that evaluate food sources post-ingestively and facilitates adequate protein intake.

Sign in / Sign up

Export Citation Format

Share Document