scholarly journals Studies on the beneficial effect of levocarnitine chloride(LC-80) on organic acidemias, especially propionic acidemia and methylmalonic acidemia.

1989 ◽  
Vol 93 (5) ◽  
pp. 305-314 ◽  
Author(s):  
Shigeki FUJISAWA ◽  
Keiko SHIMATANI ◽  
Hiroaki YAMADA ◽  
Yutaka HIRONAKA
Keyword(s):  
Beneficial Effect ◽  
Propionic Acidemia ◽  
Methylmalonic Acidemia ◽  
Organic Acidemias

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

scholarly journals Mass Spectrometry-Based Metabolomic and Proteomic Strategies in Organic Acidemias

2016 ◽  
Vol 2016 ◽  
pp. 1-13 ◽  
Author(s):  
Esther Imperlini ◽  
Lucia Santorelli ◽  
Stefania Orrù ◽  
Emanuela Scolamiero ◽  
Margherita Ruoppolo ◽  
...  
Keyword(s):  
Mass Spectrometry ◽  
Molecular Mechanisms ◽  
Propionic Acidemia ◽  
Dried Blood Spots ◽  
Small Samples ◽  
Organic Acidemias ◽  
Propionate Metabolism ◽  
Economical Evaluation ◽  
Inherited Metabolic Disorders ◽  
Recent Developments

Organic acidemias (OAs) are inherited metabolic disorders caused by deficiency of enzymatic activities in the catabolism of amino acids, carbohydrates, or lipids. These disorders result in the accumulation of mono-, di-, or tricarboxylic acids, generally referred to as organic acids. The OA outcomes can involve different organs and/or systems. Some OA disorders are easily managed if promptly diagnosed and treated, whereas, in others cases, such as propionate metabolism-related OAs (propionic acidemia, PA; methylmalonic acidemia, MMA), neither diet, vitamin therapy, nor liver transplantation appears to prevent multiorgan impairment. Here, we review the recent developments in dissecting molecular bases of OAs by using integration of mass spectrometry- (MS-) based metabolomic and proteomic strategies. MS-based techniques have facilitated the rapid and economical evaluation of a broad spectrum of metabolites in various body fluids, also collected in small samples, like dried blood spots. This approach has enabled the timely diagnosis of OAs, thereby facilitating early therapeutic intervention. Besides providing an overview of MS-based approaches most frequently used to study the molecular mechanisms underlying OA pathophysiology, we discuss the principal challenges of metabolomic and proteomic applications to OAs.

HYPERGLYCINEMIA WITH KETOSIS DUE TO A DEFECT IN ISOLEUCINE METABOLISM: A PRELIMINARY REPORT

PEDIATRICS ◽  
1972 ◽  
Vol 50 (6) ◽  
pp. 890-895
Author(s):  
James P. Keating ◽  
Ralph D. Feigin ◽  
Stanley M. Tenenbaum ◽  
Richard E. Hillman
Keyword(s):  
Developmental Delay ◽  
Pyloric Stenosis ◽  
Preliminary Report ◽  
Intellectual Development ◽  
Propionic Acidemia ◽  
Protein Restriction ◽  
Methylmalonic Acidemia ◽  
Metabolic Defect ◽  
Isoleucine Metabolism ◽  
Enzymatic Defect

A new metabolic defect, clinically mimicking pyloric stenosis, propionic acidemia, and methylmalonic acidemia is described. Although the specific enzymatic defect has not been identified, the infant's response to protein restriction has been excellent. Unfortunately, some evidences of developmental delay persist. Earlier recognition and institution of therapy may, as in allied disorders, be associated with normal physical and intellectual development.

scholarly journals Optic neuropathy in methylmalonic acidemia and propionic acidemia

2015 ◽  
Vol 100 (1) ◽  
pp. 98-104 ◽  
Author(s):  
Lidia Martinez Alvarez ◽  
Elisabeth Jameson ◽  
Neil R A Parry ◽  
Chris Lloyd ◽  
Jane L Ashworth
Keyword(s):  
Optic Neuropathy ◽  
Propionic Acidemia ◽  
Methylmalonic Acidemia

Parenteral nutrition in propionic acidemia and methylmalonic acidemia

1990 ◽  
Vol 117 (2) ◽  
pp. 338-339 ◽  
Author(s):  
J.H. Walter ◽  
J.V. Leonard ◽  
G.N. Thompson ◽  
D. Halliday
Keyword(s):  
Parenteral Nutrition ◽  
Propionic Acidemia ◽  
Methylmalonic Acidemia

scholarly journals Long-term effectiveness of carglumic acid in patients with propionic acidemia (PA) and methylmalonic acidemia (MMA): a randomized clinical trial

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Majid Alfadhel ◽  
Marwan Nashabat ◽  
Mohammed Saleh ◽  
Mohammed Elamin ◽  
Ahmed Alfares ◽  
...  
Keyword(s):  
Clinical Trial ◽  
Standard Treatment ◽  
Propionic Acidemia ◽  
Methylmalonic Acidemia ◽  
First Episode ◽  
Controlled Clinical Trial ◽  
Open Label ◽  
Significant Difference ◽  
Secondary Outcomes

Abstract Background Propionic acidemia (PA) and methylmalonic acidemia (MMA) are rare, autosomal recessive inborn errors of metabolism that require life-long medical treatment. The trial aimed to evaluate the effectiveness of the administration of carglumic acid with the standard treatment compared to the standard treatment alone in the management of these organic acidemias. Methods The study was a prospective, multicenter, randomized, parallel-group, open-label, controlled clinical trial. Patients aged ≤ 15 years with confirmed PA and MMA were included in the study. Patients were followed up for two years. The primary outcome was the number of emergency room (ER) admissions because of hyperammonemia. Secondary outcomes included plasma ammonia levels over time, time to the first episode of hyperammonemia, biomarkers, and differences in the duration of hospital stay. Results Thirty-eight patients were included in the study. On the primary efficacy endpoint, a mean of 6.31 ER admissions was observed for the carglumic acid arm, compared with 12.76 for standard treatment, with a significant difference between the groups (p = 0.0095). Of the secondary outcomes, the only significant differences were in glycine and free carnitine levels. Conclusion Using carglumic acid in addition to standard treatment over the long term significantly reduces the number of ER admissions because of hyperammonemia in patients with PA and MMA.

Emergency presentations of patients with methylmalonic acidemia, propionic acidemia and branched chain amino acidemia (MSUD)

1994 ◽  
Vol 16 ◽  
pp. 86-93 ◽  
Author(s):  
H. Henriquez ◽  
A. El Din ◽  
P.T. Ozand ◽  
S.B. Subramanyam ◽  
S.I. Al Gain
Keyword(s):  
Propionic Acidemia ◽  
Methylmalonic Acidemia ◽  
Branched Chain
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