High protein prescription in methylmalonic and propionic acidemia patients and its negative association with long-term outcome

the past hospitalization and its association with suicide attempts and ideation in patients with mdd and comparison with bmd (depressed type) group

چکیده ندارد.

Optic neuropathy in methylmalonic acidemia and propionic acidemia.

BACKGROUND Methylmalonic acidemia (MMA) and propionic acidemia (PA) are rare hereditary disorders of protein metabolism, manifesting early in life with ketoacidosis and encephalopathy and often resulting in chronic complications. Optic neuropathy (ON) has been increasingly recognised in both conditions, mostly through isolated case reports or small cases series. We here report the clinical feat...

Association of Methylmalonic Acidemia and Erythema Nodosum

Long QTc Syndrome and Propionic Acidemia.

A 9-year-old boy diagnosed as Propionic acidemia at 2 months of age, complained of palpitations and nearsyncope episodes related with exercise. His metabolic condition was well controlled on sodium benzoate, carnitine, protein-free diet and biotin treatment. A prolonged QTc interval was noted on ECG-Holter (Fig. 1). Echocardiography showed no anomalies. He fulfilled criteria for diagnosis of Lo...

Association of Methylmalonic Acidemia and Erythema Nodosum

Dear Editor, Methylmalonic acidemia, one of the organic acidemias, is associated with a variety of clinical presentations ranging from very sick newborn infants to asymptomatic adults, regardless of the nature of the enzymatic defect or the biochemical abnormalities. A 6-year-old boy with a past history of methylmalonic acidemia presented to the emergency room with a one-week history of inflamm...