E74.4

Applicable To

• Deficiency of phosphoenolpyruvate carboxykinase

• Deficiency of pyruvate carboxylase

• Deficiency of pyruvate dehydrogenase

Approximate Synonyms

• Deficiency, pyruvate carboxylase

• Deficiency, pyruvate deshydrogenase

• Pyruvate carboxylase deficiency

• Pyruvate dehydrogenase complex deficiency

• Pyruvate metabolism and gluconeogenesis disorder

Clinical Information

• A rare autosomal recessive inherited metabolic disorder caused by mutations in the pc gene. It results in the accumulation of lactic acid and other toxic substances in the blood. Signs and symptoms appear early in life and include failure to thrive, mental and growth retardation, motor disturbances, seizures, and lactic acidosis.

• A very rare, autosomal recessive inherited disorder caused by deficiency of the enzyme phosphoenolpyruvate carboxykinase, which is involved in gluconeogenesis. It presents with hypoglycemia, failure to thrive, metabolic acidosis, muscle weakness, and hepatomegaly.

• An autosomal recessive metabolic disorder caused by absent or decreased pyruvate carboxylase activity, the enzyme that regulates gluconeogenesis, lipogenesis, and neurotransmitter synthesis. Clinical manifestations include lactic acidosis, seizures, respiratory distress, marked psychomotor delay, periodic hypoglycemia, and hypotonia. The clinical course may be similar to leigh disease. from am j hum genet 1998 jun;62 6):1312-9)

• An inborn error of metabolism in which deficiency of pyruvate dehydrogenase complex is complicated by variable metabolic and neurological disorders. Neonatal lactic acidosis is usually associated with slow physical and mental development, microcephaly, dysgenesis and atrophic changes in the brain, cerebellar ataxia, seizures, and spasticity. Pyruvate dehydrogenase phosphatase ec 3.1.3.43) deficiency has been found to occur in leigh syndrome.

• An inherited metabolic disorder caused by deficient enzyme activity in the pyruvate dehydrogenase complex, resulting in deficiency of acetyl coa and reduced synthesis of acetylcholine. Two clinical forms are recognized: neonatal and juvenile. The neonatal form is a relatively common cause of lactic acidosis in the first weeks of life and may also feature an erythematous rash. The juvenile form presents with lactic acidosis, alopecia, intermittent ataxia; seizures; and an erythematous rash. from j inherit metab dis 1996;19 4):452-62) autosomal recessive and x-linked forms are caused by mutations in the genes for the three different enzyme components of this multisubunit pyruvate dehydrogenase complex. One of the mutations at xp22.2-p22.1 in the gene for the e1 alpha component of the complex leads to leigh disease.

Details

• E74.4 is a billable/specific ICD-10-CM code that can be used to indicate a diagnosis for reimbursement purposes.

• The 2023 edition of ICD-10-CM E74.4 became effective on October 1, 2022.

• This is the American ICD-10-CM version of E74.4 – other international versions of ICD-10 E74.4 may differ.