scholarly journals Functional neurologic disorders in an adult with propionic acidemia: a case report

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Alexis Tarrada ◽  
Solène Frismand-Kryloff ◽  
Coraline Hingray
Keyword(s):  
Inborn Errors Of Metabolism ◽  
Metabolic Diseases ◽  
Neurodevelopmental Disorder ◽  
Propionic Acidemia ◽  
Organic Aciduria ◽  
Obsessive Compulsive ◽  
Inborn Errors ◽  
Neurologic Disorders ◽  
Psychiatric Syndrome ◽  
Obsessive Compulsive Disorders

Abstract Background Inborn errors of metabolism are often characterized by various psychiatric syndromes. Previous studies tend to classify psychiatric manifestations into clinical entities. Among inborn errors of metabolism, propionic acidemia (PA) is a rare inherited organic aciduria that leads to neurologic disabilities. Several studies in children with PA demonstrated that psychiatric disorders are associated to neurological symptoms. To our knowledge, no psychopathological description in adult with propionic acidemia is available. Case presentation We aimed to compare the case of a 53-year-old woman with PA, to the previous psychiatric descriptions in children with PA and in adults with other inborn errors of metabolism. Our patient presented a large variety of signs: functional neurologic disorders, borderline personality traits (emotional dyregulation, dissociative and alexithymic trends, obsessive-compulsive disorders), occurring in a context of neurodevelopmental disorder. Conclusion Clinical and paraclinical examinations are in favor of a mild mental retardation since childhood and disorders of behavior and personality without any definite psychiatric syndrome, as already described in other metabolic diseases (group 3). Nonetheless, further studies are needed to clarify the psychiatric alterations within adult patients with PA.

scholarly journals Fructose and Mannose in Inborn Errors of Metabolism and Cancer

Metabolites ◽  
2021 ◽  
Vol 11 (8) ◽  
pp. 479
Author(s):  
Elizabeth L. Lieu ◽  
Neil Kelekar ◽  
Pratibha Bhalla ◽  
Jiyeon Kim
Keyword(s):  
Metabolic Disease ◽  
Inborn Errors Of Metabolism ◽  
Metabolic Diseases ◽  
Treatment Options ◽  
Biochemical Properties ◽  
Biological Molecules ◽  
Diagnostic Tools ◽  
Inborn Errors ◽  
Mannose Metabolism

History suggests that tasteful properties of sugar have been domesticated as far back as 8000 BCE. With origins in New Guinea, the cultivation of sugar quickly spread over centuries of conquest and trade. The product, which quickly integrated into common foods and onto kitchen tables, is sucrose, which is made up of glucose and fructose dimers. While sugar is commonly associated with flavor, there is a myriad of biochemical properties that explain how sugars as biological molecules function in physiological contexts. Substantial research and reviews have been done on the role of glucose in disease. This review aims to describe the role of its isomers, fructose and mannose, in the context of inborn errors of metabolism and other metabolic diseases, such as cancer. While structurally similar, fructose and mannose give rise to very differing biochemical properties and understanding these differences will guide the development of more effective therapies for metabolic disease. We will discuss pathophysiology linked to perturbations in fructose and mannose metabolism, diagnostic tools, and treatment options of the diseases.

scholarly journals Biomarker Discovery, Disease Classification, and Similarity Query Processing on High-Throughput MS/MS Data of Inborn Errors of Metabolism

2005 ◽  
Vol 11 (1) ◽  
pp. 90-99 ◽  
Author(s):  
Christian Baumgartner ◽  
Daniela Baumgartner
Keyword(s):  
Inborn Errors Of Metabolism ◽  
Biomarker Discovery ◽  
Expert Knowledge ◽  
Propionic Acidemia ◽  
Disease Classification ◽  
Therapeutic Interventions ◽  
Data Sets ◽  
Type I ◽  
Inborn Errors ◽  
Discriminatory Performance

In newborn errors of metabolism, biomarkers are urgently needed for disease screening, diagnosis, and monitoring of therapeutic interventions. This article describes a 2-step approach to discovermetabolic markers, which involves (1) the identification ofmarker candidates and (2) the prioritization of thembased on expert knowledge of diseasemetabolism. For step 1, the authors developed a new algorithm, the biomarker identifier (BMI), to identifymarkers fromquantified diseased versus normal tandemmass spectrometry data sets. BMI produces a ranked list ofmarker candidates and discards irrelevant metabolites based on a quality measure, taking into account the discriminatory performance, discriminatory space, and variance ofmetabolites’ concentrations at the state of disease. To determine the ability of identified markers to classify subjects, the authors compared the discriminatory performance of several machine-learning paradigms and described a retrieval technique that searches and classifies abnormal metabolic profiles from a screening database. Seven inborn errors of metabolism— phenylketonuria (PKU), glutaric acidemia type I (GA-I), 3-methylcrotonylglycinemia deficiency (3-MCCD), methylmalonic acidemia (MMA), propionic acidemia (PA), medium-chain acylCoAdehydrogenase deficiency (MCADD), and 3-OH longchain acyl CoA dehydrogenase deficiency (LCHADD)—were investigated. All primarily prioritized marker candidates could be confirmed by literature. Somenovel secondary candidateswere identified (i.e., C16:1 andC4DCfor PKU, C4DCfor GA-I, and C18:1 forMCADD), which require further validation to confirmtheir biochemical role during health and disease.

scholarly journals Precision of a Clinical Metabolomics Profiling Platform for Use in the Identification of Inborn Errors of Metabolism

2020 ◽  
Vol 5 (2) ◽  
pp. 342-356 ◽  
Author(s):  
Lisa Ford ◽  
Adam D Kennedy ◽  
Kelli D Goodman ◽  
Kirk L Pappan ◽  
Anne M Evans ◽  
...  
Keyword(s):  
Inborn Errors Of Metabolism ◽  
Metabolic Diseases ◽  
Clinical Laboratory ◽  
Inborn Errors ◽  
Biochemical Pathways ◽  
Whole Exome ◽  
Multiple Biomarkers ◽  
Sample Testing ◽  
Precision Study ◽  
Clinical Metabolomics

Abstract Background The application of whole-exome sequencing for the diagnosis of genetic disease has paved the way for systems-based approaches in the clinical laboratory. Here, we describe a clinical metabolomics method for the screening of metabolic diseases through the analysis of a multi-pronged mass spectrometry platform. By simultaneously measuring hundreds of metabolites in a single sample, clinical metabolomics offers a comprehensive approach to identify metabolic perturbations across multiple biochemical pathways. Methods We conducted a single- and multi-day precision study on hundreds of metabolites in human plasma on 4, multi-arm, high-throughput metabolomics platforms. Results The average laboratory coefficient of variation (CV) on the 4 platforms was between 9.3 and 11.5% (median, 6.5–8.4%), average inter-assay CV on the 4 platforms ranged from 9.9 to 12.6% (median, 7.0–8.3%) and average intra-assay CV on the 4 platforms ranged from 5.7 to 6.9% (median, 3.5–4.4%). In relation to patient sample testing, the precision of multiple biomarkers associated with IEM disorders showed CVs that ranged from 0.2 to 11.0% across 4 analytical batches. Conclusions This evaluation describes single and multi-day precision across 4 identical metabolomics platforms, comprised each of 4 independent method arms, and reproducibility of the method for the measurement of key IEM metabolites in patient samples across multiple analytical batches, providing evidence that the method is robust and reproducible for the screening of patients with inborn errors of metabolism.

METHYLMALONIC ACID

PEDIATRICS ◽  
1973 ◽  
Vol 51 (6) ◽  
pp. 1012-1015
Author(s):  
Lewis A. Barness
Keyword(s):  
Vitamin B12 ◽  
Inborn Errors Of Metabolism ◽  
Methylmalonic Acid ◽  
Methylmalonic Aciduria ◽  
Organic Aciduria ◽  
Combined System ◽  
Inborn Errors ◽  
System Disease ◽  
Amino Aciduria

Methylmalonate studies have led to some understanding of vitamin B12 metabolism as well as certain inborn errors of metabolism. These, in turn, have served as models of a group of diseases related to acidosis, so that the study of organic aciduria at present is similar to that of amino aciduria 20 years ago. Techniques for studying these have been developed. Many unanswered questions remain. (1) What does methylmalonate do? Does it, itself, cause the acidosis? Does it cause a deficiency of succinate in the oxidative cycle? (2) Are more direct ways of increasing succinate available? (3) What is the relation of methylmalonate to combined system disease or vitamin B12 neuropathy? (4) Are enzymes defective or absent? (5) What is the significance of methylmalonate in the newborn? (6) How does one counsel or treat families which include members with methylmalonic aciduria?

Protein-dependent inborn errors of metabolism

2020 ◽  
pp. 1942-1984
Author(s):  
Georg F. Hoffmann ◽  
Stefan Kölker
Keyword(s):  
Amino Acids ◽  
Organic Acid ◽  
Inborn Errors Of Metabolism ◽  
Intracellular Transport ◽  
Metabolic Diseases ◽  
Dried Blood Spots ◽  
Distinct Pattern ◽  
Inborn Errors ◽  
Enzyme Defects ◽  
Specific Disorders

Protein-dependent inborn errors of metabolism are caused by inherited enzyme defects of catabolic pathways or intracellular transport of amino acids. Most result in an accumulation of metabolites upstream of the defective enzyme (amino acids and/or ammonia), causing intoxication. Protein-dependent metabolic diseases usually have a low prevalence except for some high-risk communities with high consanguinity rates. However, the cumulative prevalence of these disorders is considerable (i.e. at least >1:2000 newborns) and represents an important challenge for all public health systems. Types and clinical presentation of protein-dependent inborn errors of metabolism—this chapter discusses amino acid disorders, organic acid disorders, and urea cycle defects. The disease spectrum is broad, but follows a distinct pattern in specific disorders. Investigation and management—every infant presenting with symptoms of unexplained metabolic crisis, intoxication, or encephalopathy requires urgent evaluation of metabolic parameters, including analyses of arterial blood gases, serum glucose and lactate, plasma ammonia and amino acids, acylcarnitine profiling in dried blood spots, and organic acid analysis in urine. This chapter discusses the basic principles of acute emergency therapy and of long-term treatment, which aims principally to mitigate the metabolic consequences of enzyme deficiencies by compensating for them. Successful treatment of affected individuals is often difficult to achieve. Careful supervision in metabolic centres involving an experienced multidisciplinary team is invaluable for the best outcome.

scholarly journals METABOLIC EMERGENCIES – PART I

2015 ◽  
Vol 64 (1) ◽  
pp. 5-9
Author(s):  
Dana-Teodora Anton-Paduraru ◽  
Keyword(s):  
Metabolic Acidosis ◽  
Inborn Errors Of Metabolism ◽  
Metabolic Diseases ◽  
Clinical Symptoms ◽  
Inborn Errors ◽  
Recommended Treatment ◽  
Metabolic Conditions ◽  
Neonatal Hypocalcemia

Often, patients with metabolic conditions (diseases caused by electrolytic unbalances, endocrine dysfunctions, inborn errors of metabolism) have symptoms similar to other emergencies, particularly as newborns and infants. The authors present the main emergencies: electrolytic unbalances – hypoglycemia, hyponatremia, metabolic acidosis and neonatal hypocalcemia; endocrine dysfunctions – suprarenal insufficiency and neonatal hypopituitarism; inborn metabolic diseases – acidosis, hyperglycemia/ hypoglycemia, hyperammoniemia, clinical symptoms associated to them, and recommended treatment.

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