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Table 1 Timeline

From: Long-term outcome of a patient with Transcobalamin deficiency caused by the homozygous c.1115_1116delCA mutation in TCN2 gene: a case report

Age Symptoms Blood
Analysis
Diagnosis Treatment Outcome
30 days -Pallor
-Recurrent vomiting at every meal
-Diarrhea
-Weight loss
(< 25th percentile)
-Megaloblastic anemia
-Normal Folate and cobalamin blood concentrations
-Urinary spot methylmalonic acid normal homocystinuria present
At 45 day a suspected transcobalamin 2 deficiency was diagnosed -Several transfusions of washed and concentrated RBC and
-IM injections of hydroxocobalamin (1 mg/day for one weeks and thereafter 1 mg/ twice a week)
-Vomiting and diarrhea disappearance
-Blood test normalization
-Body growth normalization
11 months Any symptoms -Normal hematological picture   IM injections of 1 mg/week of hydroxocobalamin -Excellent health
-Body weight (between the 50th and 75th percentiles)
8 years Any symptoms -Normal hematological picture   Therapy suspension for about two and a half months -Pancytopenia
8 years Any symptoms -Pancytopenia   Therapy resumption
IM injections of 1 mg/week of hydroxocobalamin
Hematological picture normalization
10 years and half Appearence of menarche     
29 years Any symptoms -Normal hematological picture Genetic confirmation of TCN2 mutation IM injections of 1 mg/week of hydroxocobalamin Good health
At present Any symptoms -Normal hematological picture   IM injections of 1 mg/week of hydroxocobalamin She is a 31 years old healthy lady