Propionic acidemia
Evaluation of long-term effectiveness of the use of carglumic acid in patients with propionic acidemia (PA) or methylmalonic acidemia (MMA): study protocol for a randomized controlled trial
... Propionic acidemia (PA; #606054 in the Online Mendelian Inheritance in Man [OMIM] database) and methylmalonic acidemia (MMA; OMIM #251000) are autosomal reces- sive inherited inborn errors of ...
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Atypical presentations of propionic acidemia
... the Propionic Acidosis (PA) ...In propionic acidemia, deficient activity of propionyl-CoA carboxylase prevents this conversion The pathogenesis is due to deficiency of the mitochon- ...
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Successful Treatment of Cardiac Failure Due to Cardiomyopathy in Propionic Acidemia by Cardiac Resynchronization Therapy and Hemodialysis in a Young Adult
... of propionic acidemia complications found that cardiomyopathy occurred in 10 of 54 (19%) patients with propionic acidemia, aged 2 - 33 years old ...Importantly, propionic ...
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Systematic literature review and meta-analysis on the epidemiology of propionic acidemia
... Propionic acidemia (PA, OMIM #606054) is a serious, life-threatening, inherited, metabolic disorder caused by the deficiency of the mitochondrial enzyme propionyl-coenzyme A (CoA) carboxylase (EC ...
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L carnitine enhances excretion of propionyl coenzyme A as propionylcarnitine in propionic acidemia
... Treatment with L-carnitine greatly enhanced the formation and excretion of short-chain acylcarnitines in three patients with propionic acidemia and in three normal controls. The use of fast atom bombardment ...
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Methylmalonic and propionic acidemia among hospitalized pediatric patients: a nationwide report
... Methylmalonic acidemia (MMA) (OMIM #251000, MMA mut type; OMIM #251100, MMA cblA type; OMIM #251110, MMA cblB type; OMIM #277410, MMA cblD-variant 2) and propionic acidemia (PA) (OMIM #606054), two ...
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Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients
... Results: The vast majority of patients (>85%) presented with metabolic decompensation in the neonatal period. Asymptomatic individuals were the exception. About three quarters of the study population was mentally ...
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Methylmalonic acidemia/propionic acidemia – the biochemical presentation and comparing the outcome between liver transplantation versus non-liver transplantation groups
... AST: Aspartate transaminase; BAI: Beck Anxiety Inventory; C2: Acetylcarnitine; C3: Propionylcarnitine; cbl: Cobalamin; CFOH: Chinese Foundation of Health; CLKT: Combined Liver-Kidney Tra[r] ...
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Correlation Between Blood Ammonia Concentration and Organic Acid Accumulation in lsovaleric and Propionic Acidemia
... Relationship between blood ammonia concentra- tion and serum isovaleric acid by linear regression anal- ysis is demonstrated in five patients with isovaleric aci-. demia[r] ...
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N-carbamylglutamate Augments Ureagenesis and Reduces Ammonia and Glutamine in Propionic Acidemia
... WHAT THIS STUDY ADDS: This is the first clinical trial evidence that N-carbamylglutamate can improve ureagenesis and decrease plasma ammonia and glutamine in a cohort of patients with pro[r] ...
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Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia
... Statement #45: Grade of recommendation C-D Liver and/or kidney transplantation should be considered as an alternative therapy to conventional medical treatment in MMA and PA patients wit[r] ...
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Impact of Propionic Acid on Liver Damage in Rats
... fact, propionic acidemia is a neurodevelopmental metabolic disorder characterized by elevated levels of PA that clinically resembles some aspects of autism ...
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Methylmalonic Acidemia Diagnosis by Laboratory Methods
... Acidosis, ketosis, hyperammonemia, hypoglycemia, hyperglycemia, and neutropenia are symptoms of methylmalonic and propionic acidemia (PA). Laboratory findings suggestive of MMA and PA include low ...
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FGF21 underlies a hormetic response to metabolic stress in methylmalonic acidemia
... The chronic induction of FGF21 in response to the cellular stress of MMA, perhaps originally induced as an adaptive response to promote survival, was accompanied by basal activation of many other pathways central to ...
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The Pancytopenia of Isovaleric Acidemia
... Serum isovaleric acid level as measured by gas chro- matography was markedly elevated at the time of diag- nosis at 48 mg/100 ml (normal-undetectable) and fell rapidly upon initiation of[r] ...
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INFLUENCE OF ACIDEMIA ON LEFT VENTRICULAR FUNCTION IN THE NEWBORN LAMB
... The curves for both stroke volume and mean ejection rate (right panel) were shifted to the left indicating a small im- provement in ventricular function.. Whereas these small individual [r] ...
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2 (1 Naphthyl)propionic acid
... The structure determination of the title compound, (I), was undertaken as part of an investigation of racemic and enan- tiomeric crystals of chiral compounds, which focuses on the relations between differences in ...
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3 (3 Benzoylthioureido)propionic acid
... adopts a cis±trans con®guration with respect to the position of the benzoyl and propionic acid groups relative to the S atom across the thiourea CÐN bonds, respectively. In the crystal structure, the molecules are ...
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3 (4 Methoxybenzoyl)propionic acid
... Benzoyl propionic acids are important intermediates in heterocyclic chemistry and have been used for the synthesis of various biologically active five -membered heterocyles such as butenolides, pyrrolones (Husain ...
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Clinical and neurocognitive outcome in symptomatic isovaleric acidemia
... Although IVA is known for a number of decades as a potentially life-threatening metabolic disease and included in NBS programs, information has remained sparse as to the clinical course [r] ...
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