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Home > West Medicine > Pediatrics > Pediatric Internal Med
百科

Propionic acidemia

小儿内科

Common symptoms

嗜睡、拒食、痴呆、骨质疏松、酮症酸中毒、血小板减少、惊厥

The pathology of disease

Propionic acidemia is organic acidemia; propionyl-CoA carboxylase; newborn screen; metabolic acidosis; vomiting; poor feeding; low-protein diet; metabolic specialist.

Symptoms

Poor feeding; vomiting; metabolic acidosis; ketosis; newborn screen positive; child; hyperammonemia; episodes

Causes

PCC gene mutation; autosomal recessive; propionyl-CoA carboxylase deficiency.

Treatment

Low-protein diet; carnitine; biotin; manage metabolic crises; metabolic; newborn screening; liver transplant selected

Dept

Metabolic / pediatrics / genetics / nutrition.

Warm reminder: Health education reference only; seek care at regular hospital.