Can a girl with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency live a normal life?

Abstract

1016-3190/$ e see front matter Copyright 2012, Bu doi:10.1016/j.tcmj.2012.02.011 3-Hydroxy-3-methylglutaryl-CoA lyase (HMG-CoA lyase) deficiency (OMIM: 246450) is an extremely rare genetic metabolic autosomal recessive disorder. A higher incidence of the disorder is found in Saudi Arabia than in other countries. Fewer than 100 patients have been reported worldwide, with fewer than 10 in Taiwan. It is an enzymopathy of leucine metabolism that presents with metabolic decompensation because of accumulation of large amounts of organic acid metabolites in the serum and urine (Fig. 1). The clinical manifestations usually present before the first year of life. Patients may appear with episodic vomiting, diarrhea, poor activity, loss of consciousness, or a seizure disorder. Extreme tiredness, accompanied by hepatomegaly, liver dysfunction, or hyperammonemia, also occurs. These symptoms can be misdiagnosed as Reye syndrome.Metabolic decompensation,metabolic acidosis, ketoacidosis, and profound hypoglycemia are lifethreatening situations and can lead to severe brain damage. Without appropriate management, the mortality rate is very high. Our patient was an 11-year-old girl from the Bunun tribe (Taiwan) with no family history of consanguinity. She was referred from a local clinic when she was 4 years old because of a sudden onset of loss of consciousness and status epilepticus, hypoglycemia, and metabolic acidosis after an episode of bronchopneumonia. Urine gas chromatography with mass spectrometry revealed elevated levels of 3-methyl-glutaric acid, 3-hydroxy-3-