Table 1.

Clinical findings of adult OTCD patients with fatal encephalopathy

	Pt 1 (M)	Pt 2 (M)	Pt 3 (M)	Pt 4 (M)	Pt 5 (F)
ACUTE EPISODE
Age at fatal acute episode	45 y	44 y	21 y	66 y	34 y
Duration of fatal episode	9 d	30 d	15 d	5 d	22 d
Duration of coma	7 d	1 d (first coma); 7 d (second coma)	12 d	2 d	20 d
FAMILY HISTORY OF METABOLIC DISORDERS	Negative	Negative	Negative	Negative	Negative
PAST MEDICAL HISTORY	Cholecystectomy; Crohn disease; Carpal tunnel syndrome; Sciatica	Chronic Hepatitis B with fluctuating hypertransaminasemia and prothrombin deficiency	Negative	Hypertension; Colon cancer (colectomy and oxaliplatin and capecitabine drugs); Hiccup after chemotherapy	Drowsiness during menstruation
DIET PRACTISE	Regular	Vegetarian	Diet rich in vegetables	Diet rich in vegetables	Regular
PROBABLE TRIGGERING EVENT	Cortisone therapy for joint pains	Diet change and poor feeding (8 kg lost in a month) after dental surgery	Diet change: a meal of fish in a Chinese restaurant	Chemotherapy (Oxaliplatin, Capecitabine)	Infertility hormone therapy and ICSI-ET, but without an ongoing pregnancy
MISDIAGNOSIS AT ONSET	Depression; Unspecified hepatopathy	Infectious disease; Intestinal pseudo-obstruction; Portosystemic shunts	Poisoning; Infectious diseases; Drug abuse	Poisoning; Ischemia; Cancer; Hepatitis	Narcolepsy; Cancer
SIGN AND SYMTOMS OF ACUTE EPISODE
Abdominal pain/Vomiting	No/Yes	Yes/Yes	Yes/Yes	No/No	No/No
Headache/Vertigo	Yes/Yes	No/Yes	No/No	No/Yes	No/No
Fever	No	Yes	No	No	Yes
Food refusal	Yes	Yes	No	No	No
Seizures	No	Yes	No	Yes	Yes
Hepatomegaly	No	No	No	Mild	No
Consciousness disturbances	Confusion; Drowsiness; Coma (2 d after onset)	Irritability; Confusion; Coma lasting 24 hours (5 d after onset); Subsequent coma (20 d after)	Confusion; Drowsiness; Coma (3 d after onset)	Slurred speech; Confusion; Hallucinations; Drowsiness; Coma (3 d after onset)	Drowsiness; Coma (2 d after onset)

Abbreviations: M male, F female, y years, d days, ICSI-ET intra cytoplasmatic sperm injection - embryo transfer.