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Table 1 Clinical and molecular data of MNGIE patients and controls

From: Transplantation, gene therapy and intestinal pathology in MNGIE patients and mice

Patient MNGIE-1 MNGIE-2[22] MNGIE-3 Control-1 Control-2 Control-3
Age of onset 18 y 23 y 10 y NA NA NA
GI symptoms Diarrhea, vomiting, weight loss, abdominal pain, liver steatosis Diarrhea, weight loss, liver steatosis Diarrhea, weight loss, abdominal pain NA NA NA
Extra-GI symptoms Ptosis, peripheral neuropathy, neurogenic bladder, leukoencephalopathy, lactic acidosis, hypertriglyceridemia External ophtalmoplegia, peripheral neuropathy, leukoencephalopathy Retinopathy, peripheral neuropathy, leukoencephalopathy NA NA NA
Diagnosis TP deficiency Urinary d-Urd, c.866A > C in TYMP c.866A > C in TYMP Pancreatitis IOPN GIST
Treatment of MNGIE (age) None Allogeneic HSCT (34 y) Allogeneic HSCT (17 y)
Follow-up Alive (6 y) Multi-organ failure; died 18 days after treatment GVHD, sepsis; died 6 months after treatment NA NA NA
  1. GI gastrointestinal. NA not available, TP thymidine phosphorylase enzyme, d-Urd deoxyuridine, TYMP thymidine phosphorylase IOPN intra-ductal oncocytic papillary neoplasm, GIST gastrointestinal stromal tumor, HSCT hematopoietic stem cell transplantation, GVHD graft-versus-host disease