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Case study inborn error of metabolism

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From: Castillo P.
Added: 19.04.2021
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Background: Inborn errors of metabolism IEM form an important cause of movement disorders in children. The impact of metabolic diseases and concordant movement disorders upon children's health-related quality of life HRQOL and its physical and psychosocial domains of functioning has never been investigated. Methods: Children with co-existent IEM and movement disorders were recruited from paediatric outpatient clinics. We systematically collected clinical data and videotaped examinations. The movement disorders were diagnosed by a panel of specialists. The Pediatric Quality of Life Inventory 4.
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Inborn errors of metabolism: diagnosis and treatment

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Isovaleric Acidemia: A Rare Case of an Inborn Error of Metabolism

Authors: Glenn D. Inborn errors of metabolism IEM often present as acute episodes that require hospital attention and emergency care. The clinical suspicion of an IEM is essential, since the collection of appropriate laboratory samples during an episode of clinical decompensation is the key to a specific diagnosis. However, the early recognition of IEMs is difficult, probably because they occur infrequently, and their predominant signs and symptoms are nonspecific. In the emergency department ED , clinicians faced with an acutely ill child routinely do not suspect an IEM until the more common conditions have been excluded. Another important factor is that many studies have focused their objectives on the description of the clinical phenotypes, not the acute presentation of the disease or common features of the first decompensation. Patients often arrive to the ED with symptoms requiring immediate attention, such as cardiorespiratory arrest, apnea, seizures, or coma.
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Isovaleric Acidemia: A Rare Case of an Inborn Error of Metabolism

Inborn errors of metabolism IEM is the term for a large and diverse group of genetic diseases. Each specific disease is quite rare. Many of these conditions are very serious, and may even be life-threatening. Fortunately, with better treatments and diagnosis, the outlook has improved for many people with these conditions. For patients and loved ones, it can be helpful to learn about similarities in this large group of diseases as well as the specific characteristics of each particular type.
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Inborn errors of metabolism IEMs can present with a variety of nonspecific signs and symptoms. Acute metabolic decompensations can occur either in the perinatal period or later in childhood and are usually triggered by stressors such as fever, vomiting or prolonged fasting. A workup for metabolic disorders must be initiated alongside the standard diagnostics in the event of an unexpected deterioration in a full term baby after an uneventful perinatal period. IEMs result from enzyme deficiencies in important metabolic pathways.
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