Glycogen storage disease type Ia (GSD1A; MIM: 232200) is an autosomal recessive disorder that is caused by deficient glucose-6-phosphatase (G6Pase) activity [1]. Hypoglycemia, lactatemia, hyperuricemia, hyperlipidemia, and marked hepatomegaly are the leading features of this inborn error of metabolism [2]. Up to now, over 100 mutations have been identified in the
A 23-day-old girl was admitted to the emergency room because of respiratory distress. On physical examination, there was no abnormality except tachypnea, and there was no hepatomegaly. She had hypoglycemia (32.0 mg/dL), lactatemia (8.0 mmol/L) and hyperuricemia (9.2 mg/dL). Other routine blood tests, urinalysis, and chest X-ray were normal. She was the first child of consanguineous parents. She was born at 38 weeks’ gestation and weighed 2300 g. Blood samples were obtained for metabolic tests. After hospitalization, hypertriglyceridemia (569.0 mg/dL) was determined. The size of the liver was normal on the ultra-sonographic (USG) examination. Metabolic tests [tandem-mass spectrometry (MS), blood amino acid chromatography, urine organic acids] determined normally. With these findings, the patient was thought to carry GS-D1A disease. Her daily diet was planned for 65.0% of total energy intake from carbohydrates, 15.0% from protein and the remainder from fat (with high linoleic acid content). Informed written consent was obtained from parents.
To confirm the diagnosis, mutational analysis of the
Lactatemia and hypertriglyceridemia have continued in the follow-up examinations. At 9 months of age, USG revealed mild hepatomegaly (craniocaudal length = 100 mm) for the first time, but there was no hepatomegaly on physical examination. Liver functions were normal.
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
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