scholarly journals DIFFERENTIAL DIAGNOSTICS OF INHERITED METABOLIC DISORDERS IN NEWBORNS

2020 ◽  
Vol 73 (6) ◽  
pp. 1211-1216
Author(s):  
Tetiana K. Znamenska ◽  
Olga V. Vorobiova ◽  
Тetiana V. Holota ◽  
Vera V. Kryvosheieva ◽  
Valeriy I. Pokhylko
Keyword(s):  
Metabolic Diseases ◽  
Differential Diagnostics ◽  
Inborn Errors ◽  
Molecular Tests ◽  
Inherited Metabolic Disorders ◽  
Expanded Newborn Screening ◽  
Confirmatory Tests ◽  
Pathogenetic Therapy ◽  
Diagnostic Work

The aim: To compose an applicable diagnostic checklist for neonatologists, pediatricians, and general practitioners who refer newborns with certain inherited metabolic diseases (IMDs) suspicion to confirmatory testing laboratories. Materials and methods: Analyzed international and generally, known national clinical guides and recommendations devoted to IMDs diagnostics, treatment and follow up. Results: Considering integral character of the diagnostic work-up of inborn errors of metabolism, authors of this article composed an applicable checklist that comprises set of data necessary for interpretation the positive results of expanded newborn screening and making decision of appropriate biochemical and molecular tests are required for confirmatory follow-up testing to establish the diagnosis and prescribe pathogenetic therapy. Conclusions: Properly filled checklist allow metabolic professionals to select appropriate confirmatory tests and interpret results obtained. Early IMDs diagnosis and prompt treatment initiation are crucial for positive outcomes and proved to be an effective tool to decrease levels of child disability and infant mortality.

Acute hepatic porphyrias for the neurologist: current concepts and perspectives

2021 ◽  
Author(s):  
Paulo Victor Sgobbi de Souza ◽  
Bruno de Mattos Lombardi Badia ◽  
Igor Braga Farias ◽  
Eduardo Augusto Gonçalves ◽  
Wladimir Bocca Vieira de Rezende Pinto ◽  
...  
Keyword(s):  
Central Nervous System Involvement ◽  
Therapeutic Interventions ◽  
Inborn Errors ◽  
Intravenous Glucose ◽  
Inherited Metabolic Disorders ◽  
Life Threatening ◽  
Acute Porphyrias ◽  
Diagnostic Work ◽  
Atypical Presentations ◽  
Interfering Rna

ABSTRACT Background: Acute hepatic porphyrias represent an expanding group of complex inherited metabolic disorders due to inborn errors of metabolism involving heme biosynthesis. Objective: We aimed to review the main clinical and therapeutic aspects associated with acute hepatic porphyrias. Methods: The authors provided a wide non-systematic review of current concepts and recently acquired knowledge about acute hepatic porphyrias. Results: Acute neurovisceral attacks are the most common and life-threatening presentation of this group and are often considered the main clinical manifestation by clinicians during differential diagnosis and the start of proper diagnostic work-up for acute porphyrias. However, atypical presentations with central nervous system involvement, neuropsychiatric disturbances, and some subtypes with photosensitivity usually make the definite diagnosis difficult and late. Early therapeutic interventions are essential during emergency treatment and intercritical periods to avoid recurrent severe presentations. The availability of new disease-modifying therapeutic proposals based on small interfering RNA (siRNA)-based therapies, complementary to the classic intravenous glucose infusion and hemin-based treatments, emphasizes the importance of early diagnosis and genetic counseling of patients. Conclusions: This review article highlights the main biochemical, pathophysiological, clinical, and therapeutic aspects of acute hepatic porphyrias in clinical practice.

scholarly journals The Ophthalmological Manifestations of Various Inborn Errors of Metabolism: A Narrative Review

2021 ◽  
Vol 9 (2) ◽  
pp. 137-144
Author(s):  
Abdolreza Medghalchi ◽  
◽  
Afagh Hassanzadeh Rad ◽  
Setila Dalili ◽  
◽  
...  
Keyword(s):  
Inborn Errors Of Metabolism ◽  
Genetic Disorders ◽  
Single Gene ◽  
Scientific Information ◽  
Narrative Review ◽  
Inborn Errors ◽  
Relevant Evidence ◽  
Ocular Manifestations ◽  
Inherited Metabolic Disorders

Context: Inborn errors of metabolism or Inherited Metabolic Disorders (IMD) are a class of genetic disorders that occur because of single-gene defects. Evidence Acquisition: In this narrative review article, the authors searched Institute for Scientific Information (ISI), Web of Science, PubMed, and Google Scholar for the relevant evidence. Results: The ocular manifestations of IMDs can be distinguished in different diseases such as Albinism, Cystinosis, Homocystinuria, and Sulfite oxidize deficiency, Mannosidosis, Fucosidosis, Sialidosis, etc. Conclusions: Due to the direct toxic mechanisms of abnormal metabolites on eyes and regarding the effect of eye monitoring on the follow-up, management, and treatment, a detailed ophthalmological assessment is essential.

scholarly journals SARS-CoV-2 infection in a patient with propionic acidemia

2020 ◽  
Vol 15 (1) ◽  
Author(s):  
Anna Caciotti ◽  
Elena Procopio ◽  
Francesca Pochiero ◽  
Silvia Falliano ◽  
Giuseppe Indolfi ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Propionic Acidemia ◽  
Psychomotor Development ◽  
Inborn Errors ◽  
Clinical Complications ◽  
Metabolic Crisis ◽  
Previous Diagnosis ◽  
Expanded Newborn Screening ◽  
Clinical Consequences

Abstract We describe a 14-month-old boy, with a previous diagnosis of propionic acidemia (PA) by expanded newborn screening, who, admitted for a suspected metabolic crisis, tested positive for SARS-CoV-2. Since propionic acidemia was diagnosed, the patient has followed the recommended diet for this inborn error of metabolism. Although propionic acidemia patients are at a high risk of suffering metabolic crises, frequently associated with permanent clinical complications, psychomotor development of this patient was normal. The SARS-CoV-2 infection (at about 1 year of age) caused the patient’s first metabolic crisis. However, his clinical course was in keeping with a mild clinical form of COVID-19, and he recovered without experiencing severe clinical consequences. We describe this patient in order to improve the knowledge about follow up of PA patients identified by newborn screening and to increase the limited number of reports of SARS-CoV-2 infection in children with comorbidities, especially inborn errors of metabolism.

Nutrition and medical support during pregnancy and lactation in women with inborn errors of intermediary metabolism disorders (IEMDs)

2020 ◽  
Vol 33 (1) ◽  
pp. 5-20 ◽  
Author(s):  
Penelope D. Manta-Vogli ◽  
Kleopatra H. Schulpis ◽  
Yannis Dotsikas ◽  
Yannis L. Loukas
Keyword(s):  
Fatty Acid ◽  
Early Diagnosis ◽  
Metabolic Diseases ◽  
Reproductive Age ◽  
Intermediary Metabolism ◽  
Medical Support ◽  
Inborn Errors ◽  
Lactating Women ◽  
Expanded Newborn Screening ◽  
Pregnancy And Lactation

AbstractThe establishment of expanded newborn screening (NBS) not only results in the early diagnosis and treatment of neonates with inborn errors of intermediary metabolism disorders (IEMDs) but also helps the affected females to reach the reproductive age under medical and dietetic support, as well as to give birth to normal infants. In this review, we aimed to focus on laboratory investigation tests, dietetic management and medical support for most known IEMD pregnant and lactating women, such as those suffering from aminoacidopathies, carbohydrate metabolic diseases and fatty acid (FAO) oxidation disorders.

Hypoglycemia

2016 ◽  
Author(s):  
Claire Douillard
Keyword(s):  
Adult Patient ◽  
Inborn Error ◽  
Inborn Errors Of Metabolism ◽  
Newly Diagnosed ◽  
Multisystem Disorder ◽  
Inborn Errors ◽  
Diagnostic Work ◽  
Work Up ◽  
Diagnostic Work Up

Newly diagnosed hypoglycemia in an adult patient caused by a hitherto undiagnosed inborn error of metabolism is rare. However, the implications are important as follow-up and treatments may differ, especially when hypoglycemia is part of a multisystem disorder. This chapter describes the different inborn errors of metabolism that can present with or be revealed by hypoglycemia, with emphasis on the diagnostic work-up and symptoms.

scholarly journals Spectrum Analysis of Inherited Metabolic Disorders for Expanded Newborn Screening in a Central Chinese Population

2022 ◽  
Vol 12 ◽  
Author(s):  
Xia Li ◽  
Jun He ◽  
Ling He ◽  
Yudong Zeng ◽  
Xuzhen Huang ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Incidence Rate ◽  
Intellectual Development ◽  
Metabolic Disorders ◽  
Carnitine Deficiency ◽  
Acid Oxidation ◽  
Abnormal Growth ◽  
Inherited Metabolic Disorders ◽  
Expanded Newborn Screening ◽  
Confirmatory Tests

Neonatal inherited metabolic disorders (IMDs) are closely associated with early neonatal death and abnormal growth and development. Increasing attention has been paid to IMDs because of their high incidence and diversity. However, there are no reports about the incidence of IMDs in Changsha, China. Therefore, we retrospectively analyzed the screening results of neonates to evaluate the characteristics of IMDs in the area. From January 2016 to December 2020, 300,849 neonates were enrolled for expanded newborn screening by tandem mass spectrometry in the Neonatal Disease Screening Center of the Changsha Hospital for Maternal & Child Health Care. Newborns with mild initial results were recalled for repeated tests; if the second test was still positive, the patient was referred for confirmatory tests. A total of 71 confirmed cases were identified in our study, with an incidence rate of 1:4,237. There were 28 cases of amino acid metabolic disorders, representing 39.44% of the IMDs diagnosed, with an incidence rate of 1:10,745. Twelve newborns were diagnosed with organic acid metabolic disorders, accounting for 16.66% of IMDs, with an incidence rate of 1:25,071. There were 31 cases of fatty acid oxidation disorders, representing 43.05% of IMDs, with an incidence rate of 1:9,705. Overall, 14 types of IMDs were found in Changsha. The most common disorders in the region were primary carnitine deficiency, hyperphenylalaninemia and short-chain acyl-CoA dehydrogenase deficiency. Their incidence rate is respectively 1:13,675, 1:16,714 and 1:42,978. The mutations in PAH, SLC22A5, and ACADS are the leading causes of IMDs in this area. This study demonstrates the importance of utilizing MS/MS in IMD screening for early diagnosis and treatment. This strategy may be used for prenatal genetic counseling to avoid irreversible growth and intellectual development disorders in children.

Organization of specialized products provision for disabled children with inherited metabolic diseases in the Russian Federation

2021 ◽  
Vol 19 (3) ◽  
pp. 46-56
Author(s):  
T.V. Bushueva ◽  
◽  
T.E. Borovik ◽  
A.P. Fisenko ◽  
L.M. Kuzenkova ◽  
...  
Keyword(s):  
Metabolic Diseases ◽  
Food Products ◽  
Diet Therapy ◽  
Disabled Children ◽  
Basic Principles ◽  
Inherited Metabolic Diseases ◽  
Inherited Metabolic Disorders ◽  
The Status ◽  
Pathogenetic Therapy ◽  
Diagnostic Capabilities

A significant interest in the diagnosis and treatment of orphan diseases, among which inherited metabolic diseases (IMD) constitute a significant part, has been currently increased. For many of them, diet therapy with specialized food products remains the basis of pathogenetic therapy and complex treatment. The expansion of diagnostic capabilities of neonatal and selective screening requires timely guaranteed patients’ provision with specialized therapeutic food products. The article highlights the basic principles of diet therapy for the most common inherited metabolic diseases and the current rules for providing these products to disabled children and patients with IMD who do not have the status of “children with disabilities”. Key words: inherited metabolic disorders, diet therapy, specialized food products, phenylketonuria, galactosemia, cystic fibrosis, celiac disease

scholarly journals The Effect of Amino Acid, Carbohydrate, and Lipid Metabolism Disorders on Eyes

2020 ◽  
Vol 6 (3) ◽  
pp. 190-196
Author(s):  
Abdolreza Medghalchi ◽  
Keyword(s):  
Metabolic Disorders ◽  
Metabolic Diseases ◽  
Age Of Onset ◽  
Genetic Disorders ◽  
Clinical Manifestations ◽  
Final Diagnosis ◽  
Lipid Metabolism Disorders ◽  
Inherited Metabolic Disorders ◽  
Ophthalmological Assessment

Inherited metabolic disorders (IMDs) are a class of genetic disorders. Each metabolic disorder may have different forms with different age of onset, clinical manifestations, severity, and even type of inheritance. Ideally, a group of different specialists, including ophthalmologists, pediatricians, biochemists, and medical geneticists are needed for the final diagnosis and management of IMDs. Because of the importance of the aforementioned issue, we investigated the effect of IMDs on the eye in this review. Metabolic disorders can induce abnormalities in conjunctiva, cornea, lens, retina, optic nerve, and eye motility.  In this study, the authors aimed to address the effect of metabolic diseases of amino acids, carbohydrates, and lipids on eye metabolism. Because of the direct toxic mechanisms of abnormal metabolites on the eyes and regarding the effect of eye monitoring on follow-up, management, and treatment of IMDs, a detailed ophthalmological assessment is essential.

Characterization and outcome of 11 children with non-diabetic ketoacidosis

2020 ◽  
Vol 0 (0) ◽  
Author(s):  
Elsayed Abdelkreem ◽  
Rofaida M. Magdy ◽  
Abdelrahim A. Sadek
Keyword(s):  
Diabetic Ketoacidosis ◽  
Case Series ◽  
Inborn Errors ◽  
Laboratory Features ◽  
Level 3 ◽  
Conscious Level ◽  
Neurodevelopmental Impairment ◽  
Salicylate Intoxication ◽  
Prompt Diagnosis

AbstractObjectivesTo study the clinical and laboratory features, management, and outcome of pediatric non-diabetic ketoacidosis (NDKA).MethodsBetween May 2018 and April 2020, we prospectively collected children under 18 years who presented with ketoacidosis, defined as ketosis (urinary ketones ≥++ and/or serum β-hydroxybutyrate level ≥3 mmol/L) and metabolic acidosis (pH <7.3 and HCO3− <15 mmol/L). Children with HbA1c level ≥6.5% at initial presentation and those meeting the diagnostic criteria for DM during follow-up were excluded. Data were collected on demographics, clinical and laboratory features, management, and outcome.ResultsEleven children with 19 episodes of NDKA were identified. The median age was 12 months (range from 5 months to 5 years). They manifested dehydration and disturbed conscious level (all cases), convulsions (n=6), hypoglycemia (n=6), hyperglycemia (n=2) and significant hyperammonemia (n=4). Most cases required intensive care management. Death or neurodevelopmental impairment occurred in six cases. Seven cases had inborn errors of metabolism (IEMs). Other cases were attributed to starvation, sepsis, and salicylate intoxication.ConclusionsThis is the largest case series of pediatric NDKA. Ketoacidosis, even with hyperglycemia, is not always secondary to diabetes mellitus. IEMs may constitute a significant portion of pediatric NDKA. Increased awareness of this unfamiliar condition is important for prompt diagnosis, timely management, and better outcome.

Sign in / Sign up

Export Citation Format

Share Document