Akademik Veri Yönetim Sistemi
International Congress of Inborn Errors of Metabolism 2025, Kyoto, Japonya, 2 - 06 Eylül 2025, (Yayınlanmadı)
Introduction: Phosphoglucomutase 1 (PGM1) is a key enzyme in glycolysis, glycogenesis, and glycogenolysis that catalyzes the reversible conversion between glucose-1-phosphate and glucose-6-phosphate. PGM1 deficiency (OMIM: 614921) was initially defined as a glycogen storage disorder (type XIV) and recently was reclassified as a congenital disorder of glycosylation (PGM1-CDG) as PGM1 is also required for protein N-glycosylation. Clinically, patients present with myopathy, recurrent hypoglycemia, dilated cardiomyopathy, hepatopathy, bifid uvula/ cleft palate, and growth retardation.
Case study: A 4-year-old girl was referred to the pediatric metabolism unit for recurrent hypoglycemia. She was born from consanguineous marriage at 3600 grams at 38 gestational weeks with C/S. She had feeding difficulty and a cleft palate, so for 5 months, an orogastric way fed her; at the age of 1, she was operated on with a cleft palate. First, at 7 months old, she had a seizure due to hypoglycemia. When she was two years old, she was diagnosed with a growth hormone (GH) deficiency, and GH therapy began two years later. Under GH therapy, hypoglycemia recurred, so she was admitted to a different pediatric endocrinology clinic; after the reassessment, growth hormone deficiency was ruled out. At age 4, GH treatment stopped. In physical examination, she had dysmorphic features, a prominent forehead, Pierre Robin sequence, operated cleft palate, micrognathia, retrognathia and large tongue. She had no inverted nipple or fat pads. Laboratory blood glucose 32 mg/dL ALT was normal, AST:98 U/L and CK 523 U/L levels were elevated with normal INR. Echocardiography revealed mild left ventricular dilatation. Abdomen ultrasonography showed no prominent hepatomegaly and focal steatosis was detected. First, for the hypoglycemia, high amylopectin cornstarch was started as a treatment. After the diagnosis was confirmed, PGM1-CDG D-galactose 0.75 gr/kg/d was added to the treatment. The genetic panel that performed for glycogen storage disorders detected a likely pathogenic homozygous variant at the exon three on the PGM1 gene. Serum transferrin analysis by isoelectric focusing (TIEF) was abnormal with all high transferrins.
Conclusion: PGM1-CDG is a rare type of CDG that may present with endocrine problems (hypoglycemia, growth hormone deficiency etc.), liver dysfunction, myopathy as well as dysmorphic features. The absence of inverted nipples or fat pads does not rule out the disease. If there are hidden clues like recurrent hypoglycemia, cleft palate and growth hormone deficiency, we should think of PGM1-CDG, one of the few types of CDG with an effective treatment in the form of D-Galactose.