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Metabolic Disease

Rare Metabolic Disease


Presentation

  • We present a previously healthy adolescent who was admitted to our emergency department with a four-day history of myalgia, muscle weakness and dark urine. At presentation, she was dehydrated.[ncbi.nlm.nih.gov]
  • Cases may present during early childhood or can be delayed into adolescence or beyond. We present a case of multiple acyl-coenzyme A dehydrogenase deficiency (MADD), an extremely rare disorder of fatty acid oxidation.[ncbi.nlm.nih.gov]
  • We present a 3-year-old boy with LHGA who developed a medulloblastoma during the course of the disease. There has been no previous report of the coexistence of medulloblastomas with LHGA.[ncbi.nlm.nih.gov]
  • Its main feature is an even stronger emphasis on the clinical presentation of inborn errors of metabolism.[books.google.com]
  • Mixed pathology is also possible, particularly in late presentations.[ncbi.nlm.nih.gov]
Fatigue
  • And if your blood sugar is high, you might notice the signs and symptoms of diabetes — such as increased thirst and urination, fatigue, and blurred vision.[mayoclinic.org]
  • The patient is readily fatigued and daily routines will take longer. Memory is often affected from an early stage and the patient becomes apathetic and sluggish. Some patients may also show low mood and irritability.[alzheimer-europe.org]
  • Hypothyroidism slows body processes and causes fatigue (tiredness), slow heart rate, excessive weight gain, and constipation. Kids and teens with this condition can be treated with oral thyroid hormone.[kidshealth.org]
  • Symptoms of high blood sugar often include increased thirst; increased urination, especially at night; fatigue (tiredness); and blurred vision. High blood pressure usually has no signs or symptoms.[medicinenet.com]
Turkish
  • Author information 1 Department of Paediatrics, Children's Hospital Linz, Linz, Austria. dieter.furthner@gespag.at Abstract We report on the fatal clinical course of a 3 year old male Turkish patient suffering from osteopetrosis caused by a homozygous[ncbi.nlm.nih.gov]
Muscle Weakness
  • We present a previously healthy adolescent who was admitted to our emergency department with a four-day history of myalgia, muscle weakness and dark urine. At presentation, she was dehydrated.[ncbi.nlm.nih.gov]
  • Neurological disturbances are often reported with deafness, slurred speech, a gruff husky voice, muscle cramps and muscle weaknesses and carpal tunnel syndrome at the wrists.[alzheimer-europe.org]
Renal Injury
  • The underlying pathogenesis of metabolic disease-related renal injury remains obscure.[ncbi.nlm.nih.gov]
Seizure
  • A 4-month-old female baby visited an outpatient clinic due to poor weight gain, repeated seizure-like episodes, developmental delay, and unexplained hepatomegaly with abnormal liver function test results.[ncbi.nlm.nih.gov]
  • Life-threatening symptoms, such as breathing problems, seizure and organ failure can occur with acute metabolic disturbance, such as too much alcohol.[houstonmethodist.org]
  • Symptoms of Inherited Metabolic Diseases can include a failure to thrive, seizures and other neurologic disorders, developmental delays, abnormal blood tests and hypotonia (abnormal loss of muscle tone).[mountsinaifpa.org]
  • Non-ketotic hyperglycinemia is characterized by seizures, low muscle tone, hiccups, breath holding, and severe developmental impairment.[britannica.com]
  • Some of the symptoms that can occur with metabolic disorders are lethargy, weight loss, jaundice and seizures. The symptoms expressed would vary with the type of metabolic disorder.[en.wikipedia.org]
Peripheral Neuropathy
  • Examples of conditions that come in genetically determined and nongenetic types include dementias of the subtypes Alzheimer, Pick, frontotemporal, Parkinson disease, amyotrophic lateral sclerosis, and peripheral neuropathies.[emedicine.medscape.com]
Apathy
  • Other symptoms of kwashiorkor include apathy, hair discoloration, and dry, peeling skin with sores that fail to heal.[britannica.com]

Treatment

  • As in the first edition, treatment is discussed extensively. Details are given for dietary treatment and drug administrations in acute situations, during infections and in maintenance treatment.[books.google.com]
  • This system has therefore generated great interest as a potential target for treatment of obesity.[ncbi.nlm.nih.gov]
  • Cardiac screening of patients with metabolic diseases is important to guide treatment and stratify risk.[ncbi.nlm.nih.gov]
  • Here, we provide a brief overview of progress in miRNA-based therapeutics in the preclinical and clinical setting and highlight the novel outcomes and opportunities in the diagnosis and treatment of metabolic conditions.[ncbi.nlm.nih.gov]
  • These findings point to a novel avenue of treatment for these disorders of intermediary metabolism, and indicate the importance of microbial gut flora in normal human metabolism.[ncbi.nlm.nih.gov]

Prognosis

  • BACKGROUND: Recent data suggest that the presence of associated metabolic abnormalities may be important modifiers of the association of obesity with a poorer prognosis in coronary heart disease.[ncbi.nlm.nih.gov]
  • […] lipid and glucose metabolism and their role in the pathogenesis of metabolic disorders such as diabetes and obesity, where dysregulation leads to disease; they are also important in angiogenesis. miRNAs additionally serve as biomarkers in the diagnosis, prognosis[ncbi.nlm.nih.gov]
  • Approximately 50 percent of persons with homocystinuria are responsive to treatment with vitamin B 6 (pyridoxine), and these individuals tend to have a better intellectual prognosis.[britannica.com]

Etiology

  • In pediatric patients, its main etiology is infectious diseases. We present a previously healthy adolescent who was admitted to our emergency department with a four-day history of myalgia, muscle weakness and dark urine.[ncbi.nlm.nih.gov]
  • Rare inherited metabolic diseases with neurological and gastrointestinal manifestations can be misdiagnosed as other diseases or remain as disorders with indeterminate etiologies.[ncbi.nlm.nih.gov]
  • However, the exact mechanisms that link specific variations in the composition of the gut microbiota with the development of obesity and metabolic diseases in humans remain obscure owing to the complex etiology of these pathologies.[ncbi.nlm.nih.gov]

Epidemiology

  • PURPOSE OF REVIEW: This review summarises and discusses the epidemiological evidence suggesting a causal relationship between sleep duration and cardio-metabolic risk and outcomes in population.[ncbi.nlm.nih.gov]
  • This brief review will highlight recent epidemiological and experimental studies linking paternal overnutrition, undernutrition, and other forms of stress, to metabolic disease in the offspring.[ncbi.nlm.nih.gov]
  • The first of this two-part review discusses the epidemiologic evidence in support of the existence of an association between these risk factors with cardiovascular and metabolic disease.[ncbi.nlm.nih.gov]
  • To outline possible future directions in genetic epidemiological research with Māori and Pacific communities.[ncbi.nlm.nih.gov]
  • High-level evidence-based and epidemiological and mechanism studies should be carried out to further interpret and explain of the scientific connotation of GLMD.[ncbi.nlm.nih.gov]
Sex distribution
Age distribution

Pathophysiology

  • In this review, we provide an overview of the pathophysiology of non-alcoholic fatty pancreas disease and associations with metabolic factors, obesity and diabetes.[ncbi.nlm.nih.gov]
  • In this article, we summarize the current understanding of autophagy-its classification, progression, and regulation; its roles in both physiological and pathophysiological conditions; and the balance between autophagy and apoptosis.[ncbi.nlm.nih.gov]
  • For more detailed information, particularly with respect to pathophysiology and genetics, we highly recommend the seventh edition of The Metabolic Basis of Inherited Disease, by Charles R. Scriver et al. (McGraw-Hill, 1995).[books.google.com]
  • RECENT FINDINGS: Sleep duration is affected by a variety of cultural, social, psychological, behavioural, pathophysiological and environmental influences.[ncbi.nlm.nih.gov]
  • Mitochondria are at the front line of cellular energy homoeostasis and are implicated in the pathophysiology of obesity and obesity-related metabolic disease.[ncbi.nlm.nih.gov]

Prevention

  • The comprehensive prevention and control strategy "Tiao Gan Qi Shu Hua Zhuo" (modulating Gan, trigging key metabolic system to resolve pathogenic factors such as phlegm retention and dampness).[ncbi.nlm.nih.gov]
  • Nonetheless, action must be taken now to ensure that PA and reducing SB are given a priority to prevent and manage metabolic diseases and improve wider health outcomes.[ncbi.nlm.nih.gov]
  • Exercise training prevents and manages the symptoms of many cardio-metabolic diseases whilst concurrently maintaining telomere length.[ncbi.nlm.nih.gov]
  • By treating cancer as a metabolic disease, the booksets readers on a new, more promising path to understanding theorigins of cancer and developing new, more effective strategies totreat and prevent it.[amazon.com]
  • The Center for Metabolic Disease Prevention brings the best science to bear on the challenge of controlling the global epidemic of metabolic diseases, and provides leadership in metabolic disease prevention through interdisciplinary research, improving[cmdp.ucla.edu]

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