A NOVEL MUTATION IN A NEWBORN BABY LEADING TO GLYCOGEN STORAGE DISEASE TYPE IA
Dorum S, Gorukmez O
*Corresponding Author: Sevil Dorum, M.D., Department of Pediatrics, Division of Metabolism, Bursa Yüksek İhtisas Training and Research Hospital, Emniyet Street 35, 16310, Yıldırım, Bursa, Turkey. Tel.: +90+505-258-3766. Fax: +90-224-294-4000. E-mail: sevildorum@gmail.com
page: 55

DISCUSSION

Glycogen storage disease type Ia is a rare disease that primarily affects the kidneys and liver. There is an excessive accumulation of glycogen in the liver and kidneys due to G6Pase enzyme deficiency [2]. Patients with GSD1A have various clinical manifestations according to the patientís age, including fasting hypoglycemia, hepatomegaly, hyperlipidemia, lactic acidemia, hyperuricemia, poor growth and short stature [1,2]. In the neonatal period, patients may present with symptoms of lactic acidosis and hypoglycemia [4,5]. Our patient presented with hypoglycemia and lactic acidemia in the neonatal period. Glycogen storage disease type Ia was considered in our patient with other clinical findings and the diagnosis was genetically confirmed. By direct sequencing of the G6PC gene, we identified a novel homozygous variation (c.137T>G/p. Leu 46Arg in exon1) in the patient and the healthy mother and father were heterozygotes for the variant (Figure 1). This variant has not been previously reported in the Human Gene Mutation Database (HGMD; http://www. hgmd.cf.ac. uk/ac/ index.php) and in population studies (ExAC: Exome Aggregation Consortium and 1000 Genomes Project; http://exac. broadinstitute. org/). In silico analysis program (VarSome; DANN Score: 0.9967; https:// varsome.com/) showed that this change could be the cause of the disease. Hepatomegaly is one of the main findings of GSD1A and it is seen in all patients but proper diagnosis can be difficult in infants with GSD1A who do not have not severe hepatomegaly. Infants who have not been diagnosed before are presenting with hepatomegaly at 3 to 6 months of age [2]. In these patients, hepatomegaly occurs due to glycogen and fat storage [7]. However, hepatomegaly was not detected either in the examination or in the USG in the follow-up of our patient during the first 9 months. First, at the end of the 9th month, USG examination revealed mild hepatomegaly and an increase of liver echogenicity. In these patients, liver functions are normal except for glucose homeostasis, cirrhosis is not expected. Adenoma may develop in the second decade of life. Liver functions were normal in our patient. Dietary treatment improves the quality of life of the patients and may prevent complications [6]. Our patientís diet was regulated according to the European Study on Glycogen Storage Disease Type I recommendations [7]. We present a patient with GSD1A and a novel mutation in the G6PC gene. Our findings have expanded the spectrum of causative mutations, and clinical findings in GSD1A. This novel mutation, which was not previously described, appears to be a mutation associated with milder hepatomegaly. Declaration of Interest. The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.



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