Propionic Acidemia with Novel Mutation Presenting as Recurrent Pancreatitis in a Child
نویسندگان
چکیده
منابع مشابه
A Rare Cause of Recurrent Acute Pancreatitis in a Child: Isovaleric Acidemia with Novel Mutation
Recurrent acute pancreatic attacks is a rare clinical condition (2-5% of all acute pancreatis) in children and is mainly idiopathic in most cases. Sometimes it may be associated with congenital anomalies, metabolic diseases or hereditary conditions. Isovaleric acidemia (IVA) is a rare autosomal recessive amino acid metabolism disorder associated with isovaleryl coenzyme A dehydrogenase deficien...
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adverse event reports by an expert advisory committee. Advisory Committee on Causality Assessment. Bull World Health Organ. 2000;78:178-85. 3. Dragos V, Mervic L, Zgavec B. Lichen striatus in a child after immunization. A case report. Acta Dermatovenerol Alp Panonica Adriat. 2006;15:178-80. 4. Moore K, Lam JM. The toddler with 1 striped leg: a linear papular rash. CMAJ. 2009; 28;180:947-8. 5. V...
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Necrolytic migratory erythema was first described in 1942 in a patient with pancreatic islet cell carcinoma. The disease can, however, have other etiologies including nutritional dermatoses. Here, we describe the clinicopathological picture of a 7-year-old female patient who presented with necrolytic migratory erythema which we believe is secondary to a rare combination of zinc deficiency and p...
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Aminoglycosides and other compounds can promote premature termination codon (PTC) readthrough constituting a potential therapy for patients with nonsense mutations. In a cohort of 190 propionic acidemia (PA) patients, we have identified 12 different nonsense mutations, six of them novel, accounting for 10% of the mutant alleles. Using an in vitro system, we establish the proof-of-principle that...
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Lymphoma which has a wide range of manifestations is the third malignancy in pediatrics. Nearly, 50% of patients have extranodal involvement. Pancreas can be affected secondarily more than primarily. A 10-year-old boy with recurrent abdominal pain in the epigastric region for six weeks was referred to Amirkola Childrenchr('39')s Hospital, affiliated to Babol University of medical sciences (nort...
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ژورنال
عنوان ژورنال: Journal of Korean Medical Science
سال: 2019
ISSN: 1011-8934,1598-6357
DOI: 10.3346/jkms.2019.34.e303