The 20 Best PEPCK 1 Deficiency Doctors Near Me in glastonbury, CT

Find the Top PEPCK 1 Deficiency Experts and Specialists

Last Updated: 09/26/2026

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MediFind found 1 doctor with experience in PEPCK 1 Deficiency near glastonbury, CT. Of these, 1 are Experienced.

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1 provider found
    Experienced in PEPCK 1 Deficiency
    Experienced in PEPCK 1 Deficiency
    Referral may be required

    ProHealth Physicians, Glastonbury Pediatrics And Adolescent Medicine

    290 Western Blvd, 
    Glastonbury, CT 
     (3.3 miles away)
    860-652-3325
    Languages Spoken:
    English
    See accepted insurances

    Robert Adamenko is a Pediatrics provider practicing medicine in Glastonbury, Connecticut. Dr. Adamenko is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. He is also highly rated in 1 other condition, according to our data. His clinical expertise encompasses Autism Spectrum Disorder, Autosomal Recessive Congenital Methemoglobinemia, Dihydrolipoamide Dehydrogenase Deficiency, and PEPCK 1 Deficiency.

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    Last Updated: 09/26/2026

    What is the definition of PEPCK 1 Deficiency?

    PEPCK1 deficiency is a rare inborn error of metabolism disorder, characterized by the deficiency of the enzyme PEPCK1, one of the enzymes needed for gluconeogenesis, the process by which organisms produce sugars (namely glucose) from non-carbohydrate precursors (such as amino acids). In severe cases, symptoms may include persistent and very low levels of blood's sugar in newborns (neonatal hypoglycemia), failure to thrive, build-up of lactic acid in the blood (lactic acidosis), liver enlargement (hepatomegaly) and liver failure leading to neurological degeneration. Milder cases present during childhood with fewer and less serious liver problems. Infections and fasting may trigger the symptoms. PEPCK1 deficiency inheritance is autosomal recessive. It is caused by genetic changes in the PEPCK1 gene. PEPCK1 is the cytosolic form of the phosphoenolpyruvate carboxykinase (PEPCK) enzyme, the other being the mitochondrial (PEPCK2).
    15 miles has been selected.