Methylmalonic Acid

Quando le anemie sono una questione di VITA... MINE

Passarella T, Alboreto E, Costagliola C, Serafino F, Di Jorgi M, Arcuri L, Calvillo M

2025/9 — pag. 249-250 — DOI

The paper reports two paediatric cases of severe macrocytic anaemia due to vitamin B12 deficiency. Both patients presented with cytopenia and neurological involvement, which improved with hydroxocobalamin supplementation. These cases highlight the im...

Una carenza di vitamina B12... contagiosa

Acone F, Gustuti V

2025/3 — pag. 73-74 — DOI

The paper reports the case of a seven-month-old infant presenting with recurrent vomiting, severe pallor, hypotonia and growth arrest. Laboratory tests revealed pancytopenia with macrocytic anaemia, hyperhomocysteinemia and markedly elevated methylma...

La B12 c'è ma non funziona

Vitale R.

2024/7 — pag. 468-470 — DOI

The paper reports the typical case and clinic of a defect in B12 metabolism. Such diseases, which are rare, mimic B12 intake or absorption deficits (crasis alterations, mixed neuropathy) but are distinguished first and foremost by the presence of nor...

Quando e perché pensare all'omocisteina

Ramenghi U

2024/7 — pag. 415-416 — DOI

La B12 c'è ma non funziona

Vitale R

2024/7 — pag. 133-134 — DOI

The paper reports the typical case and clinic of a defect in B12 metabolism. Such diseases, which are rare, mimic B12 intake or absorption deficits (crasis alterations, mixed neuropathy) but are distinguished first and foremost by the presence of nor...

Quando una sepsi neonatale nasconde una malattia metabolica

C. Forino, C. Rodriguez-Perez

2005/1 — pag. 58-58

A 50-day-old boy presented with failure to thrive, hypotonia, pustular lesions and facial erythema, neutropenia and multiple positive cultures to Staphylococcus aureus. He was treated with intravenous antibiotics without clinical benefit. He devel...