When a Common Symptom of a Neonate Become an Unusual Diagnosis: A Case Report of HMG-Coa Lyase Deficiency with a Novel Mutation

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Cigdem Seher Kasapkara
Melek Akar
Mehmet Nuri Ozbek
Heybet Tuzun
Meltem Akcaboy
Serdar Ceylaner


3-Hydroxy-3-methylglutaryl-coenzyme A (HMG-CoA) lyase deficiency is a rare inborn error of metabolism characterized by recurrent metabolic crises caused by fasting, intercurrent illness and excessive physical exercise. Non ketotic hypoglycemia is normally the cause of primary symptoms but without an immediate treatment the illness can evolve into a worsening metabolic state resembling the Reye's syndrome that may cause the patient's death. We report a neonate with some clinical and therapeutic features not previously described mutation in HMGCL gene. The genetic analysis revealed a novel homozygous c.272T>A(p.Val91Asp) mutation in HMGCL gene. HMG-CoA lyase deficiency should be thought in the patients with hypoketotic hypoglycemia, hyperammonemia, elevated liver function tests and metabolic acidosis.

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Muñoz-Bonet JI, Ortega-Sánchez MD, León Guijarro JL. Management and long-term evolution of a patient with 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency. Ital J Pediatr. 2017;43(1):12.

Aoyama Y, Yamamoto T, Sakaguchi N, et al. Application of multiplex ligation-dependent probe amplification, and identification of a heterozygous Alu-associated deletion and a uniparental disomy of chromosome 1 in two patients with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency. Int J Mol Med. 2015;35(6):1554-60

Köksal T, Gündüz M, Özaydın E, et al. 3-HMG Coenzyme A Lyase Deficiency:Macrocephaly and Left Ventricular Noncompaction with a Novel Mutation. Indian J Pediatr. 2015;82(7):645-8.

Santarelli F, Cassanello M, Enea A, et al. A neonatal case of 3-hydroxy-3-methylglutaric-coenzyme A lyase deficiency. Ital J Pediatr. 2013; 24;39:33.

Leung AA, Chan AK, Ezekowitz JA, et al. A Case of Dilated Cardiomyopathy Associated with 3-Hydroxy-3-Methylglutaryl-Coenzyme A (HMG CoA) Lyase Deficiency. Case Rep Med. 2009;2009:183125.

Pié J, López-Viñas E, Puisac B, et al. Molecular genetics of HMG-CoA lyase deficiency. Mol Genet Metab. 2007;92(3):198-209.

Reimão S, Morgado C, Almeida IT, et al. 3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: initial presentation in a young adult. J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S49-52.

Yalçinkaya C, Dinçer A, Gündüz E,et al. MRI and MRS in HMG-CoA lyase deficiency. Pediatr Neurol. 1999;20(5):375-80.