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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.866Aā€‰>ā€‰C in TYMP

c.866Aā€‰>ā€‰C in TYMP

Pancreatitis

IOPN

GIST

Treatment of MNGIE (age)

None

Allogeneic HSCT (34 y)

Allogeneic HSCT (17 y)

ā€“

ā€“

ā€“

Follow-up

Alive (6 y)

Multi-organ failure; died 18Ā days after treatment

GVHD, sepsis; died 6Ā 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