scholarly journals Inherited Metabolic Causes of Stroke in Children: Mechanisms, Types, and Management

2021 ◽  
Vol 12 ◽  
Author(s):  
Brahim Tabarki ◽  
Wejdan Hakami ◽  
Nader Alkhuraish ◽  
Kalthoum Graies-Tlili ◽  
Marwan Nashabat ◽  
...  
Keyword(s):  
Metabolic Disorders ◽  
Rapid Onset ◽  
Neurological Deficits ◽  
Pediatric Stroke ◽  
Vessel Occlusion ◽  
Appropriate Treatment ◽  
Inherited Metabolic Disorders ◽  
Underlying Mechanisms ◽  
Metabolic Stroke ◽  
Metabolic Dysfunctions

A stroke should be considered in cases of neurologic decompensation associated with inherited metabolic disorders. A resultant stroke could be a classical ischemic stroke (vascular stroke) or more commonly a “metabolic stroke.” A metabolic stroke begins with metabolic dysfunctions, usually caused by a stressor, and leads to the rapid onset of prolonged central neurological deficits in the absence of vessel occlusion or rupture. The cardinal features of a metabolic stroke are stroke-like episodes without the confirmation of ischemia in the typical vascular territories, such as that seen in classic thrombotic or embolic strokes. Identifying the underlying cause of a metabolic stroke is essential for prompt and appropriate treatment. This study reviews the major inherited metabolic disorders that predispose patients to pediatric stroke, with an emphasis on the underlying mechanisms, types, and management.

Inherited metabolic diseases and the kidney

2015 ◽  
Author(s):  
Robin Lachmann ◽  
Elaine Murphy
Keyword(s):  
Early Diagnosis ◽  
Renal Disease ◽  
Clinical Manifestation ◽  
Biochemical Markers ◽  
Metabolic Disorders ◽  
Metabolic Diseases ◽  
Improve Outcome ◽  
Inherited Metabolic Diseases ◽  
Appropriate Treatment ◽  
Inherited Metabolic Disorders

The kidney is affected in a number of inherited metabolic disorders. This chapter focuses on several in which renal disease is usually not the primary clinical manifestation, meaning that there are often other multisystem features and biochemical markers which aid diagnosis. They are rare, but important as early diagnosis and appropriate treatment can often improve outcome.

NAFLD at the Interface of the Mother-Infant Dyad

2020 ◽  
Vol 26 (10) ◽  
pp. 1119-1125
Author(s):  
Sara Bertrando ◽  
Pietro Vajro
Keyword(s):  
Metabolic Disorders ◽  
Maternal Obesity ◽  
Adult Life ◽  
Dietary Interventions ◽  
Alcoholic Fatty Liver ◽  
Breastfed Infants ◽  
Model Studies ◽  
Micro Rnas ◽  
Fetal Reprogramming ◽  
Metabolic Dysfunctions

: This review aims to focus the links existing between several aspects of the mother-child dyad in the intricate playground of obesity and Metabolic Syndrome (MetS), including its hepatic component, the Non- Alcoholic Fatty Liver Disease (NAFLD). In recent years human and animal model studies have shown that dietary interventions in mothers and offspring can be successful in reducing the risk of NAFLD development. Evidences also concern the new concept of a real intergenerational transmission of predisposition to metabolic disorders. Certain genes, such as SIRT1 and PNPLA3, and some epigenetic modifications, including micro RNAs function, seem to be responsible for fetal reprogramming in the setting of maternal obesity. These modifiers appear to be potential therapeutic targets to reduce the risk of future metabolic dysfunctions. : Controlling antepartum hyperglycemia, preventing gestational diabetes, and avoiding excessive weight gain during pregnancy can help reduce the relentless epidemic of childhood obesity and NAFLD. Also, the composition of the intestinal microbiota seems to be related to the development of metabolic disorders in the offspring. Several studies show that breastfed infants have a microbial signature different from formula-fed infants. Much interestingly, prolonged breastfeeding is beneficial not only for the newborn and his health in adult life, but also for the mothers’ health. Maternal benefits include reducing the risk of developing chronic diseases, such as diabetes mellitus, myocardial infarction and NAFLD as well. : In conclusion, all above mechanisms appear to intervene synergistically and may act as modifiable risk factors for infant and mother NAFLD.

Ketogenic diets in patients with inherited metabolic disorders

2015 ◽  
Vol 38 (4) ◽  
pp. 765-773 ◽  
Author(s):  
S. Scholl-Bürgi ◽  
A. Höller ◽  
K. Pichler ◽  
M. Michel ◽  
E. Haberlandt ◽  
...  
Keyword(s):  
Metabolic Disorders ◽  
Ketogenic Diets ◽  
Inherited Metabolic Disorders

INHERITED METABOLIC DISORDERS AND HEART DISEASES

2019 ◽  
Author(s):  
Vjekoslav Krželj ◽  
Ivana Čulo Čagalj
Keyword(s):  
Metabolic Disorders ◽  
Metabolic Diseases ◽  
Technological Development ◽  
Heart Diseases ◽  
Glycogen Storage ◽  
Acid Oxidation ◽  
Lysosomal Storage ◽  
Glycogen Storage Diseases ◽  
Coronary Diseases ◽  
Inherited Metabolic Disorders

Inherited metabolic disorders can cause heart diseases, cardiomyopathy in particular, as well as cardiac arrhythmias, valvular and coronary diseases. More than 40 different inherited metabolic disorders can provoke cardiomyopathy, including lysosomal storage disorders, fatty acid oxidation defects, organic acidemias, amino acidopathies, glycogen storage diseases, congenital disorders of glycosylation as well as peroxisomal and mitochondrial disorders. If identified and diagnosed on time, some of congenital metabolic diseases could be successfully treated. It is important to assume them in cases when heart diseases are etiologically undefined. Rapid technological development has made it easier to establish the diagnosis of these diseases. This article will focus on common inherited metabolic disorders that cause heart diseases, as well as on diseases that might be possible to treat.

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