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Home > West Medicine > Pediatrics > Pediatric Internal Med
百科

Methylmalonic acidemia

儿科综合

Common symptoms

昏迷、低血糖症、痴呆、面部畸形、呼吸窘迫综合症、肌张力减低、生长缓慢、代谢性酸中毒

The pathology of disease

Methylmalonic acidemia is organic acidemia; children; metabolic acidosis; hyperammonemia; poor feeding; low protein diet; B12; carnitine; liver transplant selected; metabolic/genetics.

Symptoms

Poor feeding; vomiting; metabolic acidosis; hyperammonemia; infant; child; metabolic crisis

Causes

Mut/MUT; methylmalonic acidemia; organic acidemia; AR; B12 metabolism.

Treatment

Low protein diet; B12 trial; carnitine; treat metabolic crisis; liver transplant selected; metabolic/genetics

Dept

Pediatrics / metabolic / genetics / pediatric gastroenterology.

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