Diseases & Conditions


A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

PEPCK Deficiency


Synonyms of PEPCK Deficiency
  • Phosphoenolpyruvate Carboxykinase Deficiency

Disorder Subdivisions

  • PEPCK Cytosolic
  • PEPCK Mitochondrial


General Discussion
PEPCK deficiency is an extremely rare disorder of carbohydrate metabolism inherited as an autosomal recessive trait. A deficiency of the enzyme phosphoenolpyruvate carboxykinase (PEPCK), which is a key enzyme in the conversion of proteins and fat to glucose (gluconeogenesis), causes an excess of acid in the circulating blood (acidemia). Characteristics of this disorder are low blood sugar (hypoglycemia), loss of muscle tone, liver enlargement and impairment, and failure to gain weight and grow normally.

Organizations related to PEPCK Deficiency
  • CLIMB (Children Living with Inherited Metabolic Diseases)
    Climb Building
    Crewe Intl CW2 6BG
    Phone #: +44- 87-0 7700 325
    800 #: --
    e-mail: info@climb.org.uk
    Home page: http://www.CLIMB.org.uk
  • Lactic Acidosis Support Trust
    1A Whitley Close
    Cheshire None CW10 0NQ
    Phone #: 016-068-3719
    800 #: --
    e-mail: N/A
    Home page: N/A
  • NIH/National Digestive Diseases Information Clearinghouse
    2 Information Way
    Bethesda MD 20892-3570
    Phone #: 301-654-3810
    800 #: 800-891-5389
    e-mail: nddic@info.niddk.nih.gov
    Home page: http://www.niddk.nih.gov
  • United Mitochondrial Disease Foundation
    8085 Saltsburg Road
    Pittsburgh PA 15239
    Phone #: 412-793-8077
    800 #: --
    e-mail: info@umdf.org
    Home page: http://www.umdf.org



For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ? (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html