A late-onset glutaric acidemia type Ⅱ patient characterized by muscle weakness and hepatic failure / 中华实用儿科临床杂志

ABSTRACT

Clinical data and treatment of a patient with late-onset glutaric acidemia type Ⅱ who was admitted to the Department of Pediatric Intensive Care Unit (PICU) of Shenzhen Children′s Hospital were retrospectively analyzed.The patient is a female with the clinical manifestations of aggravated progressive proximal muscle weakness, accompanied by vomiting, abdominal pain and liver enlargement.A marked increase of transaminase, bilirubin and creatine kinase was detected, and hyperammonemia, hypoglycemia and metabolic acidosis were also observed in the patient.Blood amino acids and acylcarnitines spectra showed increased levels of various acylcarnitines.The muscle biopsy study suggested lipid storage myopathy (LSM), and the genetic test identified a homozygous mutation in the electron transfer flavoprotein dehydrogenase (ETFDH) gene.After treatment with Vitamin B 2, carnitine, coenzyme Q10 and plasma exchange, the motivate ability and biochemical parameters of the patient returned to normal.For patients with aggravated progressive proximal muscle weakness, hepatic dysfunction and increased serum creatine kinase levels, late-onset glutaric acidemia type Ⅱ should be considered.The key to early diagnosis and treatment of the disease is to improve the knowledge of it.