EEG-findings and epilepsy in children with propionic acidemia

2008 ◽  
Vol 39 (01) ◽  
Author(s):  
E Haberlandt ◽  
C Canestrini ◽  
M Brunner-Kainz ◽  
D Möslinger ◽  
K Mussner ◽  
...  
Keyword(s):  
Propionic Acidemia

EEG-alterations in patients with propionic acidemia

2004 ◽  
Vol 35 (01) ◽  
Author(s):  
E Haberlandt ◽  
E Trinka ◽  
LB Zimmerhackl ◽  
S Baumgartner ◽  
V Konstantopoulou ◽  
...  
Keyword(s):  
Propionic Acidemia

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 Current Perspectives on Neonatal Screening for Propionic Acidemia in Japan: An Unexpectedly High Incidence of Patients with Mild Disease Caused by a Common PCCB Variant

2021 ◽  
Vol 7 (3) ◽  
pp. 35
Author(s):  
Go Tajima ◽  
Reiko Kagawa ◽  
Fumiaki Sakura ◽  
Akari Nakamura-Utsunomiya ◽  
Keiichi Hara ◽  
...  
Keyword(s):  
Neonatal Screening ◽  
Acid Metabolism ◽  
Neonatal Period ◽  
Propionic Acidemia ◽  
Cardiac Complications ◽  
Mild Disease ◽  
Follow Up Study ◽  
Organic Acid Metabolism ◽  
High Incidence

Propionic acidemia (PA) is a disorder of organic acid metabolism which typically presents with acute encephalopathy-like symptoms associated with metabolic acidosis and hyperammonemia during the neonatal period. The estimated incidence of symptomatic PA in Japan is 1/400,000. The introduction of neonatal screening using tandem mass spectrometry has revealed a far higher disease frequency of approximately 1/45,000 live births due to a prevalent variant of c.1304T>C (p.Y435C) in PCCB, which codes β-subunit of propionyl-CoA carboxylase. Our questionnaire-based follow-up study reveals that most of these patients remain asymptomatic. However, reports on symptomatic patients exhibiting cardiac complications such as cardiomyopathy and QT prolongation have been increasing. Moreover, there were even cases in which these cardiac complications were the only symptoms related to PA. A currently ongoing study is investigating the risk of cardiac complications in patients with neonatal screening-detected PA caused by this common variant.

scholarly journals Cardiomyocytes Derived from Induced Pluripotent Stem Cells as a Disease Model for Propionic Acidemia

2021 ◽  
Vol 22 (3) ◽  
pp. 1161
Author(s):  
Esmeralda Alonso-Barroso ◽  
Belén Pérez ◽  
Lourdes Ruiz Desviat ◽  
Eva Richard
Keyword(s):  
Stem Cells ◽  
Induced Pluripotent Stem Cells ◽  
Pluripotent Stem Cells ◽  
Ex Vivo ◽  
Disease Model ◽  
Propionic Acidemia ◽  
Heart Tissue ◽  
Altered Expression ◽  
Cellular Models ◽  
Induced Pluripotent

Propionic acidemia (PA), one of the most frequent life-threatening organic acidemias, is caused by mutations in either the PCCA or PCCB genes encoding both subunits of the mitochondrial propionyl-CoA carboxylase (PCC) enzyme. Cardiac alterations (hypertrophy, dilated cardiomyopathy, long QT) are one of the major causes of mortality in patients surviving the neonatal period. To overcome limitations of current cellular models of PA, we generated induced pluripotent stem cells (iPSCs) from a PA patient with defects in the PCCA gene, and successfully differentiated them into cardiomyocytes. PCCA iPSC-derived cardiomyocytes exhibited reduced oxygen consumption, an accumulation of residual bodies and lipid droplets, and increased ribosomal biogenesis. Furthermore, we found increased protein levels of HERP, GRP78, GRP75, SIG-1R and MFN2, suggesting endoplasmic reticulum stress and calcium perturbations in these cells. We also analyzed a series of heart-enriched miRNAs previously found deregulated in the heart tissue of a PA murine model and confirmed their altered expression. Our novel results show that PA iPSC-cardiomyocytes represent a promising model for investigating the pathological mechanisms underlying PA cardiomyopathies, also serving as an ex vivo platform for therapeutic evaluation.

scholarly journals Identification of 2,2-Dimethylbutanoic Acid (HST5040), a Clinical Development Candidate for the Treatment of Propionic Acidemia and Methylmalonic Acidemia

2021 ◽  
Vol 64 (8) ◽  
pp. 5037-5048
Author(s):  
Allison J. Armstrong ◽  
Brad R. Henke ◽  
Maria Sol Collado ◽  
Justin M. Taylor ◽  
Taylor D. Pourtaheri ◽  
...  
Keyword(s):  
Propionic Acidemia ◽  
Clinical Development ◽  
Methylmalonic Acidemia

High frequency of large genomic deletions in the PCCA gene causing propionic acidemia

2009 ◽  
Vol 96 (4) ◽  
pp. 171-176 ◽  
Author(s):  
Lourdes R. Desviat ◽  
Rocío Sanchez-Alcudia ◽  
Belén Pérez ◽  
Celia Pérez-Cerdá ◽  
Rosa Navarrete ◽  
...  
Keyword(s):  
High Frequency ◽  
Propionic Acidemia ◽  
Genomic Deletions

Long QT as a first sign for propionic acidemia in a 10‐year‐old girl

2021 ◽  
Author(s):  
Hideo Sasai ◽  
Hiroko Goto ◽  
Miwa Kawashiri ◽  
Takashi Kuwahara
Keyword(s):  
Propionic Acidemia ◽  
Long Qt

scholarly journals Emerging trends in management of propionic acidemia

2014 ◽  
Vol 58 (3) ◽  
pp. 237-242 ◽  
Author(s):  
Muhammad Rafique
Keyword(s):  
Sodium Benzoate ◽  
Protein Intake ◽  
Propionic Acidemia ◽  
Amino Acid Mixture ◽  
Fresh Frozen Plasma ◽  
Acid Mixture ◽  
Fresh Frozen ◽  
Almost All ◽  
Term Management

Objetivo : To evaluate the therapeutic agents used during metabolic crises and in long-term management of patients with propionic acidemia (PA).Materials and methods : The records of PA patients were retrospectively evaluated.Results : The study group consisted of 30 patients with 141 admissions. During metabolic crises, hyperammonemia was found in 130 (92%) admissions and almost all patients were managed with normal saline, ≥ 10% dextrose, and restriction of protein intake. In 56 (40%) admissions, management was done in intensive care unit, 31 (22%) with mechanical ventilation, 10 (7%) with haemodialysis, 16 (11%) with vasopressor agents, and 12 (9%) with insulin. In the rescue procedure, L-carnitine was used in 135 (96%) patients, sodium bicarbonate in 116 (82%), sodium benzoate in 76 (54%), and metronidazole in 10 (7%), biotin in about one-quarter, L-arginine in one third, and antibiotics in three-quarter of the admissions. Blood/packed RBCs were used in 28 (20%) patients, platelets in 26 (18%), fresh frozen plasma in 8 (6%), and granulocyte-colony stimulating factors in 10 (7%) admissions. All patients were managed completely/partially with medical nutrition formula plus amino acid mixture, vitamins and minerals. For long-term management 24 (80%) patients were on L-carnitine, 22 (73%) on sodium benzoate, 6 (20%) on biotin, one half on alkaline therapy and 4 (13%) on regular metronidazole use. Almost all patients were on medical formula and regular follow-up.Conclusion : Aggressive and adequate management of acute metabolic crises with restriction of protein intake, stabilization of patient, reversal of catabolism, and removal of toxic metabolites are essential steps. Concerted efforts to ensure adequate nutrition, to minimize the risk of acute decompensation and additional therapeutic advances are imperative to improve the outcome of PA patients. Arq Bras Endocrinol Metab. 2014;58(3):237-42

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