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
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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 patient’s 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 patient’s 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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