PMID- 36167523
OWN - NLM
STAT- MEDLINE
DCOM- 20220929
LR  - 20221015
IS  - 1755-8794 (Electronic)
IS  - 1755-8794 (Linking)
VI  - 15
IP  - 1
DP  - 2022 Sep 27
TI  - A glycogen storage disease type 1a patient with type 2 diabetes.
PG  - 205
LID - 10.1186/s12920-022-01344-3 [doi]
LID - 205
AB  - BACKGROUND: Glycogen storage disease type 1a (GSD1a) is an inborn genetic disease 
      caused by glucose-6-phosphatase-alpha (G6Pase-alpha) deficiency and is often observed to 
      lead to endogenous glucose production disorders manifesting as hypoglycemia, 
      hyperuricemia, hyperlipidemia, lactic acidemia, hepatomegaly, and nephromegaly. 
      The development of GSD1a with diabetes is relatively rare, and the underlying 
      pathogenesis remains unclear. CASE PRESENTATION: Here we describe a case of a 
      25-year-old Chinese female patient with GSD1a, who developed uncontrolled type 2 
      diabetes mellitus (T2DM) as a young adult. The patient was diagnosed with GSD1a 
      disease at the age of 10 and was subsequently treated with an uncooked cornstarch 
      diet. Recently, the patient was treated in our hospital for vomiting and 
      electrolyte imbalance and was subsequently diagnosed with T2DM. Owing to the 
      impaired secretory function of the patient's pancreatic islets, liver 
      dysfunction, hypothyroidism, severe hyperlipidemia, and huge hepatic adenoma, we 
      adopted diet control, insulin therapy, and hepatic adenoma resection to alleviate 
      this situation. The WES discovered compound heterozygous mutations at the exon 5 
      of G6PC gene at 17th chromosome in the patient, c.648G>T (p.L216 L, NM_000151.4, 
      rs80356484) in her father and c.674T>C (p.L225 P, NM_000151.4, rs1555560128) in 
      her mother. c.648G>T is a well-known splice-site mutation, which causes CTG 
      changing to CTT at protein 216 and creates a new splicing site 91 bp downstream 
      of the authentic splice site, though both codons encode leucine. c.674T>C is a 
      known missense mutation that causes TGC to become CGC at protein 225, thereby 
      changing from coding for leucine to coding for proline. CONCLUSION: We report a 
      rare case of GSD1a with T2DM. On the basis of the pathogenesis of GSD1a, we 
      recommend attentiveness to possible development of fasting hypoglycemia caused by 
      GSD and postprandial hyperglycemia from diabetes. As the disease is better 
      identified and treated, and as patients with GSD live longer, this challenge may 
      appear more frequently. Therefore, it is necessary to have a deeper and more 
      comprehensive understanding of the pathophysiology of the disease and explore 
      suitable treatment options.
CI  - (c) 2022. The Author(s).
FAU - Sun, Yi
AU  - Sun Y
AD  - Department of Endocrinology and Metabolism, Affiliated Hospital of Nantong 
      University, Nantong, Jiangsu, China.
FAU - Qiang, Wenhui
AU  - Qiang W
AD  - Department of Endocrinology and Metabolism, Affiliated Hospital of Nantong 
      University, Nantong, Jiangsu, China.
AD  - Medical College, Nantong University, Nantong, Jiangsu, China.
FAU - Wu, Runze
AU  - Wu R
AD  - Department of Endocrinology and Metabolism, Affiliated Hospital of Nantong 
      University, Nantong, Jiangsu, China.
AD  - Medical College, Nantong University, Nantong, Jiangsu, China.
FAU - Yin, Tong
AU  - Yin T
AD  - Department of Endocrinology and Metabolism, Affiliated Hospital of Nantong 
      University, Nantong, Jiangsu, China.
FAU - Yuan, Jie
AU  - Yuan J
AD  - Department of Endocrinology and Metabolism, Affiliated Hospital of Nantong 
      University, Nantong, Jiangsu, China.
FAU - Yuan, Jin
AU  - Yuan J
AD  - Department of Endocrinology and Metabolism, Affiliated Hospital of Nantong 
      University, Nantong, Jiangsu, China.
FAU - Gu, Yunjuan
AU  - Gu Y
AD  - Department of Endocrinology and Metabolism, Affiliated Hospital of Nantong 
      University, Nantong, Jiangsu, China. desette@ntu.edu.cn.
AD  - Department of Endocrinology, Affiliated Hospital of Nantong University, 20 Xisi 
      Road, Nantong, 226001, Jiangsu, China. desette@ntu.edu.cn.
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20220927
PL  - England
TA  - BMC Med Genomics
JT  - BMC medical genomics
JID - 101319628
RN  - 0 (Electrolytes)
RN  - 0 (Insulins)
RN  - 9005-25-8 (Starch)
RN  - 9DLQ4CIU6V (Proline)
RN  - EC 3.1.3.9 (Glucose-6-Phosphatase)
RN  - GMW67QNF9C (Leucine)
RN  - IY9XDZ35W2 (Glucose)
RN  - Hepatorenal form of glycogen storage disease
SB  - IM
MH  - *Adenoma
MH  - Adult
MH  - *Diabetes Mellitus, Type 2/complications/genetics
MH  - Electrolytes
MH  - Female
MH  - Glucose
MH  - Glucose-6-Phosphatase/genetics/metabolism
MH  - *Glycogen Storage Disease Type I/complications/genetics
MH  - Humans
MH  - *Insulins
MH  - Leucine
MH  - Proline
MH  - Starch
PMC - PMC9516787
OTO - NOTNLM
OT  - G6PC gene
OT  - GSD1a
OT  - T2DM
COIS- The authors declare that they have no competing interests.
EDAT- 2022/09/28 06:00
MHDA- 2022/09/30 06:00
PMCR- 2022/09/27
CRDT- 2022/09/27 23:33
PHST- 2021/07/21 00:00 [received]
PHST- 2022/08/30 00:00 [accepted]
PHST- 2022/09/27 23:33 [entrez]
PHST- 2022/09/28 06:00 [pubmed]
PHST- 2022/09/30 06:00 [medline]
PHST- 2022/09/27 00:00 [pmc-release]
AID - 10.1186/s12920-022-01344-3 [pii]
AID - 1344 [pii]
AID - 10.1186/s12920-022-01344-3 [doi]
PST - epublish
SO  - BMC Med Genomics. 2022 Sep 27;15(1):205. doi: 10.1186/s12920-022-01344-3.