PEPCK 1 Deficiency
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PEPCK 1 Deficiency Overview

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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).
What are the alternative names for PEPCK 1 Deficiency?
  • PEPCK 1 deficiency
  • PEP carboxykinase deficiency
  • Phosphoenolpyruvate carboxykinase deficiency
  • Phosphoenolpyruvate carboxykinase-1 (PCK1) deficiency
  • Phosphoenolpyruvate carboxylase deficiency
  • Phosphopyruvate carboxylase deficiency
Who are the top PEPCK 1 Deficiency Local Doctors?
Elite in PEPCK 1 Deficiency
Elite in PEPCK 1 Deficiency
Referral may be required
Chengdu, CN 

Lin Tuo practices practicing medicine in Chengdu, China. Tuo is rated as an Elite expert by MediFind in the treatment of PEPCK 1 Deficiency. They are also highly rated in 1 other condition, according to our data. Their clinical expertise encompasses PEPCK 1 Deficiency and Liver Cancer.

Advanced in PEPCK 1 Deficiency
Dr. Jessica R. Priestley
Pediatrics | Medical Genetics
Advanced in PEPCK 1 Deficiency
Dr. Jessica R. Priestley
Pediatrics | Medical Genetics
Referral may be required

Corewell Health Grand Rapids Hospitals Biochemical Genetics - 25 Michigan St NE

25 Michigan Street Northeast, Suite 2100, 
Grand Rapids, MI 
616-486-9830
Experience:
8+ years
Languages Spoken:
English
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Jessica Priestley is a Pediatrics specialist and a Medical Genetics provider practicing medicine in Grand Rapids, Michigan. She has been practicing medicine for over 8 years. Dr. Priestley is rated as an Advanced provider by MediFind in the treatment of PEPCK 1 Deficiency. She is also highly rated in 21 other conditions, according to our data. Her clinical expertise encompasses Fabry Disease, Biotinidase Deficiency, Ornithine Transcarbamylase Deficiency, and Multiple Sulfatase Deficiency. Dr. Priestley is board certified in American Board Of Medical Genetics And Genomics, American Board Of Medical Genetics And Genomics, and American Board Of Pediatrics.

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

St. Christopher's Pediatric Associates Genetics - E. Erie Avenue

160 E Erie Ave, 
Philadelphia, PA 
215-427-8413
Languages Spoken:
English
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Tarachandra Narumanchi is a Medical Genetics provider practicing medicine in Philadelphia, Pennsylvania. Dr. Narumanchi is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. He is also highly rated in 21 other conditions, according to our data. His clinical expertise encompasses Urea Cycle Disorders (UCD), Phenylketonuria (PKU), Maternal Hyperphenylalaninemia, and Dihydropteridine Reductase Deficiency. Dr. Narumanchi is board certified in American Board Of Medical Genetics And Genomics.

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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center