3-Hydroxy-3-methylglutaryl-CoA lyase deficiency

Definition:

3-Hydroxy-3-methylglutaryl-CoA lyase (HL) deficiency is a rare autosomal recessive genetic disorder characterized by recurrent episodes of metabolic acidosis, hyperammonemia without ketosis, hypoglycemia, lethargy, hepatomegaly, and seizures.

References:

[1]. C Yalçinkaya, et al. MRI and MRS in HMG-CoA lyase deficiency. Pediatr Neurol. 1999 May;20(5):375-80. [Content Brief]

[2]. Juan Pié, et al. Molecular genetics of HMG-CoA lyase deficiency. Mol Genet Metab. 2007 Nov;92(3):198-209. [Content Brief]

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