scholarly journals Succinyl-CoA: 3-Ketoacid CoA-Transferase Deficiency in a Saudi Girl

2021 ◽  
Vol 8 (4) ◽  
pp. 294-297
Author(s):  
Maha Alotaibi
Keyword(s):  
Genetic Analysis ◽  
Genetic Disorder ◽  
Febrile Illness ◽  
First Episode ◽  
Severe Metabolic Acidosis ◽  
Coa Transferase ◽  
Organic Acid Profile ◽  
Urine Organic Acid ◽  
Life Threatening ◽  
Transferase Deficiency

Objective: Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency is a rare genetic disorder of ketone utilization and isoleucine catabolism caused by mutations in the OXCT1 gene, Case: A Saudi girl case of SCOT deficiency confirmed by genetic analysis has been reported in this study. A 5-year-old girl presented to the emergency with the first episode of severe metabolic ketoacidosis after a febrile illness. On admission, she was drowsy lethargic, and severely dehydrated needs to admit in a highly dependent area. Initial investigations were done during the crisis showed refractory severe metabolic acidosis (pH of 7.18, HCO3- of 7.4 mmol/L), normal ammonia, lactic acidosis, and urine organic acid profile revealed elevations in 3-hydroxybutyrate and acetoacetate. Genetic analysis was done by CentoMito Comprehensive (Large extended screening panel), sequencing of OXCT1 gene revealed that the proband is homozygous for the missense likely pathogenic variant c.1402C>T p.(Arg468Cys) confirming the diagnosis of SCOT deficiency. Conclusion: This is the first Saudi child with succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency case report as searched in the literature. This case highlights the importance of suspecting SCOT deficiency in the differential diagnosis of pediatric metabolic ketoacidosis in preventing life-threatening of severe Metabolic ketoacidosis

Risk factors for heat-related illnesses during the Hajj mass gathering: an expert review

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Saber Yezli
Keyword(s):  
Preventive Measures ◽  
Febrile Illness ◽  
Mass Gatherings ◽  
Expert Review ◽  
Hot Environment ◽  
Increased Risk ◽  
Modifiable Factors ◽  
Life Threatening ◽  
Nutrition And Hydration ◽  
And Behavior

Abstract Human exposure to a hot environment may result in various heat-related illnesses (HRIs), which range in severity from mild and moderate forms to life-threatening heatstroke. The Hajj is one of the largest annual mass gatherings globally and has historically been associated with HRIs. Hajj attracts over two million Muslim pilgrims from more than 180 countries to the holy city of Makkah, Kingdom of Saudi Arabia. Several modifiable and non-modifiable factors render Hajj pilgrims at increased risk of developing HRIs during Hajj. These include characteristics of the Hajj, its location, population, and rituals, as well as pilgrims’ knowledge of HRIs and their attitude and behavior. Makkah is characterized by a hot desert climate and fluctuating levels of relative humidity. Pilgrims are very diverse ethnically and geographically, with different adaptations to heat. Significant proportions of the Hajj population are elderly, obese, and with low levels of fitness. In addition, many have underlying health conditions and are on multiple medications that can interfere with thermoregulation. Other factors are inherent in the Hajj and its activities, including crowding, physically demanding outdoor rituals, and a high frequency of infection and febrile illness. Pilgrims generally lack awareness of HRIs, and their uptake of preventive measures is variable. In addition, many engage in hazardous behaviors that increase their risk of HRIs. These include performing rituals during the peak sunshine hours with no sun protection and with suboptimal sleep, nutrition, and hydration, while neglecting treatment for their chronic conditions. HRIs preventive plans for Hajj should incorporate measures to address the aforementioned factors to reduce the burden of these illnesses in future Hajj seasons. Lessons from the Hajj can be used to inform policy making and HRIs preventive measures in the general population worldwide.

Fatal Rhabdomyolysis Following Influenza Infection in a Girl With Familial Carnitine Palmityl Transferase Deficiency

PEDIATRICS ◽  
1989 ◽  
Vol 84 (2) ◽  
pp. 312-316
Author(s):  
Kevin J. Kelly ◽  
Jeffery S. Garland ◽  
Thomas T. Tang ◽  
Austin L. Shug ◽  
Michael J. Chusid
Keyword(s):  
Renal Failure ◽  
Muscle Biopsy ◽  
Influenza Infection ◽  
Influenza B ◽  
Preventative Measures ◽  
Life Threatening ◽  
Severe Hyperkalemia ◽  
History Of ◽  
Transferase Deficiency

Severe rhabdomyolysis following an influenza B infection developed in a previously well 13-year-old girl. There was no history of trauma. Her course was complicated by episodes of severe hyperkalemia, hypocalcemia, hyperphosphatemia, and myoglobinuria. Renal failure, hypertension, and life-threatening arrhythmias developed; she died. Muscle biopsy revealed that this girl had carnitine palmityl transferase deficiency. An asymptomatic sister was demonstrated to have the same disorder. Although carnitine palmityl transferase deficiency is usually associated with mild bouts of rhabdomyolysis that become apparent only in adulthood, severe forms of this disorder may be seen in children. Life-threatening rhabdomyolysis and myoglobinuria may follow any infection associated with decreased intake. If carnitine palmityl transferase deficiency is diagnosed in a proband, other siblings should be evaluated so that proper preventative measures can be undertaken to help prevent the development of symptoms in susceptible individuals who have not been recognized to have the disease.

scholarly journals A Newly Discovered Genetic Disorder Associated With Life-Threatening Aortic Disease in a 6-Year-Old Boy

2020 ◽  
Vol 8 ◽  
pp. 232470962090923
Author(s):  
Mohanad Hamandi ◽  
Madison L. Bolin ◽  
Joy Fan ◽  
Allison T. Lanfear ◽  
Seth K. Woolbert ◽  
...  
Keyword(s):  
Connective Tissue ◽  
Genetic Disorder ◽  
Aortic Disease ◽  
Connective Tissue Disorder ◽  
Aortic Aneurysms ◽  
Gene Variation ◽  
Life Threatening

Aortic aneurysms in children are rare and when present are usually caused by a connective tissue disorder. In this article, we present a case of multiple aortic aneurysms in an adolescent with a novel finding of a gene variation that is associated with aortic disease.

scholarly journals Hereditary angioedema: an update on causes, manifestations and treatment

2019 ◽  
Vol 80 (7) ◽  
pp. 391-398 ◽  
Author(s):  
Hilary J Longhurst ◽  
Konrad Bork
Keyword(s):  
Quality Of Life ◽  
Hereditary Angioedema ◽  
Genetic Disorder ◽  
Treatment Options ◽  
Correct Diagnosis ◽  
Self Administration ◽  
Diagnosis And Management ◽  
Life Threatening ◽  
Short And Long Term

Hereditary angioedema is a rare genetic disorder caused by deficiency of C1 esterase inhibitor (C1-INH) and characterized by recurrent episodes of severe swelling that affect the limbs, face, intestinal tract and airway. Since laryngeal oedema can be life-threatening as a result of asphyxiation, correct diagnosis and management of hereditary angioedema is vital. Hereditary angioedema attacks are mediated by bradykinin, the production of which is regulated by C1-INH. Hereditary angioedema therapy relies on treatment of acute attacks, and short- and long-term prophylaxis. Acute treatment options include C1-INH concentrate, icatibant and ecallantide. Self-administration of treatment is recommended and is associated with increased quality of life of patients with hereditary angioedema. Advances in diagnosis and management have improved the outcomes and quality of life of patients with hereditary angioedema.

scholarly journals A Case of Succinyl-CoA:3-Oxoacid CoA Transferase Deficiency Presenting with Severe Acidosis in a 14-Month-Old Female: Evidence for Pathogenicity of a Point Mutation in the OXCT1 Gene

2017 ◽  
Vol 07 (01) ◽  
pp. 062-066
Author(s):  
Daniel Zheng ◽  
Michael Hooper ◽  
Michele Spencer-Manzon ◽  
Richard Pierce
Keyword(s):  
Intensive Care Unit ◽  
Intensive Care ◽  
Inborn Errors Of Metabolism ◽  
Neonatal Period ◽  
Pediatric Intensive Care ◽  
Inborn Errors ◽  
Early Management ◽  
Coa Transferase ◽  
Transferase Deficiency ◽  
High Index Of Suspicion

AbstractWe describe a case of succinyl-CoA:3-oxoacid CoA transferase (SCOT) deficiency in an otherwise healthy 14 month-old female. She presented with lethargy, tachypnea, and hyperpnea with hypoglycemia and a severe anion gap metabolic acidosis. Early management included correction of the acidosis and metabolic support with dextrose and insulin. Inborn errors of metabolism are rare outside the neonatal period. However, SCOT deficiency may present at older ages. Maintaining a high index of suspicion, immediate transfer to a pediatric intensive care unit, and prompt metabolic support are key to achieving a favorable outcome.

Patient-Specific Hemodynamic Simulations in a Group of Patients With Coronary Artery Aneurysms Caused by Kawasaki Disease

2013 ◽  
Author(s):  
Dibyendu Sengupta ◽  
Jane C. Burns ◽  
Andrew Kahn ◽  
Alison L. Marsden
Keyword(s):  
Coronary Artery ◽  
Kawasaki Disease ◽  
Thrombus Formation ◽  
Anticoagulation Therapy ◽  
Febrile Illness ◽  
Maximum Diameter ◽  
Patient Specific ◽  
Coronary Artery Aneurysms ◽  
Patients At Risk ◽  
Life Threatening

Kawasaki disease (KD) is an acute febrile illness that can result in life threatening coronary artery aneurysms in up to 25% of untreated patients. These aneurysms put patients at risk for thrombus formation, myocardial infarction and sudden death. Currently, clinical decisions are made based on anatomy alone, with aneurysm diameter > 8mm as the arbitrary cutoff for anticoagulation therapy, despite a lack of evidence for this choice. We postulate that patient specific hemodynamics may be a better predictor for the risk of thrombosis than maximum diameter alone. To quantify hemodynamics, we performed computational fluid dynamics (CFD) simulations using patient specific models with custom coronary boundary conditions.

scholarly journals A Rare and Fatal Complication of a Self-Limiting Infection: A Case Report on Dengue Associated Hemophagocytic Lymphohistiocytosis

2019 ◽  
Vol 30 (2) ◽  
pp. 93-95
Author(s):  
Alvin Oliver Payus ◽  
Cheong Lei Wah ◽  
Syahrul Sazliyana Shaharir
Keyword(s):  
Case Report ◽  
Hemophagocytic Lymphohistiocytosis ◽  
Autosomal Recessive ◽  
De Novo ◽  
Medical Condition ◽  
Early Recognition ◽  
Genetic Disorder ◽  
Intravenous Methylprednisolone ◽  
Appropriate Treatment ◽  
Life Threatening

Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening medical condition characterized by hyperphagocytosis secondary to an inappropriate over-activation of macrophages and lymphocytes that driven by excessive cytokines production which resulted in cellular destructions. It can arise de novo as a result of an autosomal recessive genetic disorder, or in the background of an infection, malignancy or autoimmune disease. Dengue fever is one of the uncommon causes of infection related secondary HLH. Here, we present a case of a Dengue associated HLH which was successfully treated with intravenous methylprednisolone and immunoglobulin G. In conclusion, the purpose of this case report is to illustrate the importance of early recognition and prompt initiation of the appropriate treatment for HLH suspected patient whom otherwise has high mortality rate. Bangladesh J Medicine July 2019; 30(2) : 93-95

scholarly journals Munc13-4 Is an Effector of Rab27a and Controls Secretion of Lysosomes in Hematopoietic Cells

2005 ◽  
Vol 16 (2) ◽  
pp. 731-741 ◽  
Author(s):  
Maaike Neeft ◽  
Marnix Wieffer ◽  
Arjan S. de Jong ◽  
Gabriela Negroiu ◽  
Corina H.G. Metz ◽  
...  
Keyword(s):  
Plasma Membrane ◽  
Mast Cells ◽  
Genetic Disorder ◽  
Hematopoietic Cells ◽  
Lytic Granules ◽  
Secretory Lysosome ◽  
Griscelli Syndrome ◽  
Life Threatening ◽  
Lytic Granule ◽  
Secretory Lysosomes

Griscelli syndrome type 2 (GS2) is a genetic disorder in which patients exhibit life-threatening defects of cytotoxic T lymphocytes (CTLs) whose lytic granules fail to dock on the plasma membrane and therefore do not release their contents. The disease is caused by the absence of functional rab27a, but how rab27a controls secretion of lytic granule contents remains elusive. Mutations in Munc13-4 cause familial hemophagocytic lymphohistiocytosis subtype 3 (FHL3), a disease phenotypically related to GS2. We show that Munc13-4 is a direct partner of rab27a. The two proteins are highly expressed in CTLs and mast cells where they colocalize on secretory lysosomes. The region comprising the Munc13 homology domains is essential for the localization of Munc13-4 to secretory lysosomes. The GS2 mutant rab27aW73G strongly reduced binding to Munc13-4, whereas the FHL3 mutant Munc13-4Δ608-611 failed to bind rab27a. Overexpression of Munc13-4 enhanced degranulation of secretory lysosomes in mast cells, showing that it has a positive regulatory role in secretory lysosome fusion. We suggest that the secretion defects seen in GS2 and FHL3 have a common origin, and we propose that the rab27a/Munc13-4 complex is an essential regulator of secretory granule fusion with the plasma membrane in hematopoietic cells. Mutations in either of the two genes prevent formation of this complex and abolish secretion.

scholarly journals Idiopathic Thrombocytopenic Purpura Misdiagnosed as Hereditary Angioedema

2015 ◽  
Vol 2015 ◽  
pp. 1-4
Author(s):  
Michelle Fog Andersen ◽  
Anette Bygum
Keyword(s):  
Idiopathic Thrombocytopenic Purpura ◽  
Hereditary Angioedema ◽  
Care Setting ◽  
Autosomal Dominant ◽  
Bleeding Episode ◽  
Genetic Disorder ◽  
Acute Attack ◽  
Autosomal Dominant Trait ◽  
Thrombocytopenic Purpura ◽  
Life Threatening

Hereditary angioedema is a rare, but potentially life-threatening genetic disorder that results from an autosomal dominant trait. It is characterized by acute, recurrent attacks of severe local edema, most commonly affecting the skin and mucosa. Swelling in hereditary angioedema patients does however not always have to be caused by angioedema but can relate to other concomitant disorders. In this report we are focusing on misdiagnosis in a patient with known hereditary angioedema, whose bleeding episode caused by idiopathic thrombocytopenic purpura was mistaken for an acute attack of hereditary angioedema. The case illustrates how clinicians can have difficulties in handling patients with rare diseases, especially in the emergency care setting.

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