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Organic Aciduria


Presentation

  • Abstract Two siblings are described who present with fumaric aciduria, a hitherto unreported organic aciduria.[ncbi.nlm.nih.gov]
  • Special emphasis is placed on acutely presenting disorders and emergency situations. The rationale of the approaches presented in this book are based on extensive, collective clinical experience.[books.google.de]
  • Most IEMs present in a non specific manner.[alliedacademies.org]
Italian
  • Inborn errors of metabolism in the Italian pediatric population: a retrospective survey. J Pediatr 2002; 3:321-7. Applegarth DA, Toone JR, Lowry RB. Incidence of inborn errors of metabolism in British Columbia, 1969-1996. Pediatrics 2000; 105:e10.[latunisiemedicale.com]
  • CDV was supported by the grant “CCM 2010: Costruzione di percorsi diagnostico-assistenziali per le malattie oggetto di screening neonatale allargato” from the Italian Ministry of Health.[ojrd.com]
Persistent Vomiting
  • vomiting (53.8%), hepatomegaly (47.5%), mental retardation (47%), delay in motor development (43%) and abnormal movements (36.5%).[latunisiemedicale.com]
Thrombosis
  • TK, a 5 yo female, was left with 15 cm of jejunum following mesenteric artery thrombosis at 15 months. Both have experienced episodes of progressive abdominal distention, colonic ileus, and CNS depression.[nature.com]
Neglect
  • La tunisie Medicale - 2012 ; Vol 90 ( n 03 ) : 259 - 262 [ 6311 times seen ] Background: Inborn errors of metabolism are neglected in developing countries because they are not as common as infectious and nutritional disorders.[latunisiemedicale.com]

Workup

  • Sclerosis for more information on these topics Differentials The following conditions should also be considered in the evaluation of cases of suspected methylmalonic acidemia: Diagnostic Tests Perform blood, imaging, and cardiac studies as part of the workup[emedicine.medscape.com]
  • […] addition if 1000 Evaluate whether to continue specific treatment or to start palliative care Evaluate whether to aim at curative treatment or at palliative care Monitor phosphate levels and supplement early specially with hemodialysis The diagnostic workup[doi.org]

Treatment

  • Additional treatments such as carnitine or insulin may prove to be useful.[ncbi.nlm.nih.gov]
  • Therefore, the main aim of the treatment must be their removal by using standard treatment (high caloric, protein-free diet and carnitine).[ojrd.biomedcentral.com]

Prognosis

  • It is concluded that the prognosis depends closely to the presentation form and to a frequent and strict follow-up.[siicsalud.com]
  • Prognosis - Organic acidemia The prognosis of patients with organic acidemias varies with each disorder and usually depends on how quickly and accurately the condition is diagnosed and treated.[checkorphan.org]
  • These disorders vary in their prognosis, from manageable to fatal, and usually affect more than one organ system, especially the central nervous system .[humpath.com]
  • Many of the organic acidemias are detectable by newborn screening with tandem mass spectrometry.These disorders vary in their prognosis, from manageable to fatal, and usually affect more than one organ system, especially the central nervous system.[en.wikipedia.org]
  • In most instances, the disorders vary when it comes to the prognosis. Some patients may suffer from fatal or severe cases of the ailment, while others have manageable conditions.[organicacidemia.org]

Etiology

  • In 183 short chapters, the book provides the essentials clinicians need on symptoms/signs, diagnostic tests, and neurologic disorders of all etiologies. For this edition, Timothy A.[books.google.de]
  • Our patients demonstrate that gastroenterologic disorders constitute a previously unrecognized etiology to be differentiated from inborn enzymatic errors associated with glutaric aciduria.[nature.com]
  • Etiology Most of the organic acidemias result from defective autosomal genes for various enzymes important to amino acid metabolism. Most are inherited as autosomal recessive diseases .[humpath.com]
  • We conclude that amino and organic acids in urine should be investigated in all children with progressive macrocephaly of unknown etiology to rule out glutaric aciduria type I.[analesdepediatria.org]
  • Early diagnosis and treatment may delay the progression of symptoms The more common etiologies of stroke are broadly classified as cardiac, infectious, hematologic, vascular, genetic, or metabolic.[emedicine.medscape.com]

Epidemiology

  • In Tunisia, no information is available on the incidence and epidemiological features of these diseases.[latunisiemedicale.com]
  • However, it is not yet a national policy in Thailand because of its cost and limited information about the epidemiology of IEM [ 19 ].[degruyter.com]
  • Picca, Rome), liver transplantation (J. de Ville de Goyet, Rome), epidemiology (A. Tozzi, Rome) and ethics (C. Rehmann-Sutter, Basel) and a patient group representative (S. Hannigan, London).[doi.org]
Sex distribution
Age distribution

Pathophysiology

  • It had a similar frequency in patients with or without a movement disorder suggesting different pathophysiology.[zora.uzh.ch]
  • Kölker, Neurodegeneration and chronic renal failure in methylmalonic aciduria—A pathophysiological approach, Journal of Inherited Metabolic Disease, 31, 1, (35-43), (2007). M. Lindner, S. Ho, S. Kölker, G. Abdoh, G. F. Hoffmann and P.[doi.org]
  • The pathophysiology of these disorders is the result of toxicity of small molecules to brain, liver, kidney, pancreas, retina, and other organs.[web.archive.org]
  • Pathophysiology, diagnosis, and treatment of methylmalonic aciduria—recent advances and new challenges. Pediatric Nephrology. 2004;19(10):1071-4. 4. Karam PE, Habbal MZ, Mikati MA, Zaatari GE, Cortas NK, Daher RT.[ijp.mums.ac.ir]
  • .  The pathophysiology results from accumulation of precursors and deficiency of products of the affected pathway.  The majority of the classic organic acid disorders are caused by abnormal amino acid catabolism of branched chain amino acids or lysine[slideshare.net]

Prevention

  • Measures to prevent protein catabolism and intraoperative events that may precipitate metabolic acidosis, in addition to close monitoring of acid-base status during more extensive procedures, must be part of perioperative treatment of these patients.[ncbi.nlm.nih.gov]
  • Conclusion: High index of suspicion from clinicians supported by preliminary screening tests can aid in early presumptive diagnosis, which helps in initiating early treatment to prevent lethal neurological complications. Author(s): Vidya S.[biomedres.info]
  • It could have been prevented if the condition was diagnosed at birth and dietary restriction of phenylalanine was initiated.[alliedacademies.org]
  • The treatment of choice is nitisinone, which inhibits tyrosine degradation at 4-HPPD .This treatment prevents acute hepatic and neurologic crises. 26.[slideshare.net]

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