Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0042963 (vomiting)
 31,883 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Mitochondrial neurogastrointestinal encephalopathy (MNGIE) is caused by deficiency in thymidine phosphorylase (TP), that regulates thymidine (dThd) and deoxyuridine (dUrd). Toxic levels of dThd and dUrd can lead to mitochondrial dysfunction by impairing mitochondrial DNA replication, causing GI and neurologic deterioration. We studied the impact of bone marrow transplant (BMT) and platelets, as a source of TP on the clinical outcome of MNGIE. We report a case of MNGIE, who presented with severe vomiting. Over time, he was non-ambulatory and his GI symptoms got progressively worse with severe dysphagia, abdominal pain episodes, persistent vomiting and diarrhea. Being unfit for intense conditioning regimen, he received a mini BMT, with mild conditioning regimen. Bone marrow was obtained from his HLA fully matched brother. One month after transplantation, donor chimerism in peripheral blood was 33%. Excellent clinical responses were achieved 3 months after transplantation and circulating donor cell chimerism decreased to 24% with a significant increase in platelet TP activity. Ten months post transplant the patient's symptoms recurred and fresh single donor platelets were infused, with a significant increase in platelet TP activity. Mini BMT and platelet transfusion can transiently increase circulating TP activity and might prevent progress of this fatal disease.
 ...
PMID:Non-myeloablative bone marrow transplant and platelet infusion can transiently improve the clinical outcome of mitochondrial neurogastrointestinal encephalopathy: a case report. 2341 Sep 18

Mitochondrial neurogastrointestinal encephalopathy disease (MNGIE) is a rare autosomal-recessive syndrome, resulting from mutations in the TYMP gene, located at 22q13. The mutation induces a thymidine phosphorylase (TP) deficit, which leads to a nucleotide pool imbalance and to instability of the mitochondrial DNA. The clinical picture regroups gastrointestinal dysmotility, cachexia, ptosis, ophthalmoplegia, peripheral neuropathy, and asymptomatic leukoencephalopathy. The prognosis is unfavorable. We present the case of a 14-year-old Caucasian female whose symptoms started in early childhood. The diagnosis was suspected after magnetic resonance imaging (MRI), performed given the atypical features of mental anorexia, which revealed white matter abnormalities. She presented chronic vomiting, postprandial abdominal pain, and problems gaining weight accompanied by cachexia. This diagnosis led to establishing proper care, in particular an enteral and parenteral nutrition program. There is no known specific effective treatment, but numerous studies are in progress. In this article, after reviewing the existing studies, we discuss the main diagnostic and therapeutic aspects of the disease. We argue for the necessity of performing a cerebral MRI given the atypical features of a patient with suspected mental anorexia (or when the clinical pattern of a patient with mental anorexia seems atypical), so that MNGIE can be ruled out.
...
PMID:[Mitochondrial neurogastrointestinal encephalopathy disease]. 2528 63