Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0036474 (scurvy)
 685 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Prolyl hydroxylases are members of the iron- and 2-oxoglutarate-dependent dioxygenase enzyme family. Collagen prolyl hydroxylase is well known for its involvement in scurvy, in which ascorbate deficiency inhibits the enzyme and results in characteristic signs of the disease. Several distinct prolyl hydroxylases that hydroxylate (and thereby regulate) the hypoxia-inducible factor (HIF) transcription factors were discovered in 2001. These HIF prolyl hydroxylases, termed prolyl hydroxylase domain enzymes (PHDs), are the subject of this forum. HIF coordinates the cellular response to hypoxia, and the PHDs have attracted widespread interest as potential therapeutic targets in a wide range of diseases including anemia, ischemic heart disease, stroke, cancer, and pulmonary hypertension. Novel PHD-based pharmaceutical agents are now undergoing clinical trials. As well as original data, this forum includes reviews discussing recent advances in the biochemistry and therapeutic manipulation of PHDs, the potential role of PHD inhibitors in neuroprotection, and the involvement of PHDs in the complex interaction between oxygen homeostasis and iron homeostasis.
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PMID:Prolyl hydroxylases and therapeutics. 1976 7

We describe the case of a 40-year-old female patient who developed severe pulmonary hypertension and life-threatening right-sided heart failure in association with dietary scurvy and iron deficiency. Supplementation with oral vitamin C and iron very likely contributed to her complete cure. Scurvy-associated pulmonary arterial hypertension could result from impaired availability of endothelial nitric oxide, but inappropriate activation of the hypoxia-inducible family (HIF) of transcription factors could play an even more important role. HIF coordinates the body's responses to hypoxia, and its activity is regulated by oxygen-dependent prolyl hydroxylases, which need vitamin C and iron as cofactors. Deficiency of these cofactors could lead to uncontrolled HIF activity and pulmonary vasoconstriction responsive to vitamin C and iron administration.
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PMID:Reversible pulmonary hypertension associated with vitamin C deficiency. 2279 43

We report a case of a six-year-old boy who presented after a cardiac arrest, likely due to a pulmonary hypertensive crisis in the setting of vitamin C deficiency. After initially presenting with subacute multifocal bone lesions of unknown etiology, he experienced a pulseless electrical activity cardiac arrest while undergoing a diagnostic procedure under sedation. During his post-arrest convalescence, he developed persistent tachycardia and peripheral edema. An echocardiogram revealed findings consistent with significant pulmonary arterial hypertension, which was found to be responsive to inhaled nitric oxide. Laboratory investigation revealed undetectable levels of vitamin C, resulting in disclosure of a history of severe restrictive eating behavior. With ascorbate supplementation, the patient's pulmonary vasodilators were weaned and discontinued. Given his complete recovery, we suspect that the cardiac arrest and pulmonary hypertension were the consequence of a rare, but reversible, complication of scurvy.
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PMID:Cardiac arrest and pulmonary hypertension in scurvy: a case report. 3035 Dec 42

Pulmonary hypertension in children is commonly caused by underlying cardiac and pulmonary disease. Within the past 10 years, scurvy has been identified as a cause for pulmonary hypertension. We describe the case of a 3-year-old autistic boy with undiagnosed scurvy who was scheduled for cardiac catheterization. Immediately after induction, the patient became hemodynamically unstable, which worsened with administration of nitrous oxide. Cardiac catheterization revealed pulmonary hypertension, which dramatically improved with administration of vitamin C. Anesthesiologists should be aware that scurvy is more common than previously thought, even in developed countries and can cause unexpected circulatory collapse from pulmonary hypertensive crisis.
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PMID:Pulmonary Hypertensive Crisis During General Anesthesia in a 3-Year-Old Autistic Boy With Undiagnosed Scurvy, Undergoing Cardiac Catheterization: A Case Report. 3156 73

Autism spectrum disorder (ASD) may be associated with self-imposed dietary restrictions causing nutritional deficiencies, and the anesthesiologist must be aware of their potential clinical implications. Because humans are unable to produce ascorbic acid through endogenous metabolic pathways and children with ASD may avoid vitamin C-containing foods, vitamin C deficiency, or scurvy, may develop in patients scheduled for general anesthesia. Vitamin C deficiency may cause dysfunction in autonomic nervous system processes or pulmonary hypertension resulting in unexpected hemodynamic lability. We describe a child with ASD and limited dietary options leading to undiagnosed scurvy and intraoperative hypotension.
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PMID:Eighteenth Century Complications With 21st Century General Anesthesia: A Case Report of Scurvy. 3185 Sep 8

Pulmonary hypertension (PH) can be related to several diseases, such as connective tissue disorders and pulmonary embolism, or to drugs; it may also be idiopathic. Few cases have been reported demonstrating an association between ascorbic acid deficiency and reversible PH. We report the case of a patient who arrived at the emergency department with dyspnoea, tachycardia and lower limb perifollicular haemorrhage. Examinations, including a transthoracic echocardiogram, revealed enlarged right chambers and an estimated pulmonary artery systolic pressure of 61 mmHg. Further evaluation revealed poor food intake due to paranoid personality disorder, leading to ascorbic acid deficiency and manifestations of scurvy.
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PMID:Reversible Pulmonary Hypertension Secondary to Scurvy in a Patient with a Psychiatric Disorder: a Case Report and Literature Review. 3213 11