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Pyruvate dehydrogenase phosphatase deficiency: a cause of congenital chronic lactic acidosis in infancy.
- Source :
-
Pediatric research [Pediatr Res] 1975 Dec; Vol. 9 (12), pp. 935-9. - Publication Year :
- 1975
-
Abstract
- A male child presented on the first day of life with metabolic acidosis with elevated blood lactate (15 mM), pyruvate (0.4 mM), and free fatty acid (1.3 mM) levels and a blood pH of 7.16. The severity of the acidosis was diminished by intravenous administration of glucose in large doses and by bicarbonate. On two occasions, when the acidosis was particularly severe, peritoneal dialysis using an acetate buffer was required. Restriction of the dietary intake of saturated fatty acids or treatment with nicotinic acid also appeared to diminish the severity of acidosis. No improvement was achieved by the administration of thiamine or biotin. Tissues taken at postmortem showed normal activity of gluconeogenic enzymes and pyruvate dehydrogenase. The activity of pyruvate dehydrogenase in tissue homogenates preincubated with ATP was reduced by 60-75% both in liver of the patient and of the controls because of the inactivation of the enzyme by pyruvate dehydrogenase kinase. Addition of Ca++ and Mg++ to the inactivated enzyme caused a prompt return of the activity to normal in controls but not in the patient. This defect, which was apparent in muscle and liver but not in brain, we attribute to a markedly reduced activity of pyruvate dehydrogenase phosphatase in the patient.
- Subjects :
- Acidosis diet therapy
Acidosis drug therapy
Acidosis enzymology
Adenosine Triphosphate pharmacology
Bicarbonates therapeutic use
Brain enzymology
Calcium pharmacology
Glucose therapeutic use
Humans
Infant
Liver enzymology
Magnesium pharmacology
Male
Muscles enzymology
Nicotinic Acids therapeutic use
Pyruvate Dehydrogenase (Lipoamide)-Phosphatase metabolism
Acidosis congenital
Lactates blood
Phosphoric Monoester Hydrolases deficiency
Pyruvate Dehydrogenase (Lipoamide)-Phosphatase deficiency
Subjects
Details
- Language :
- English
- ISSN :
- 0031-3998
- Volume :
- 9
- Issue :
- 12
- Database :
- MEDLINE
- Journal :
- Pediatric research
- Publication Type :
- Academic Journal
- Accession number :
- 172850
- Full Text :
- https://doi.org/10.1203/00006450-197512000-00015