PYRUVATE KINASE DEFICIENCY

Question 1

What is  PYRUVATE KINASE DEFICIENCY?

Accepted Answer

rare
autosomal recessive
most common enzymopathy of anaerobic glycolysis causing hemolytic anemia, more than 130 different mutations secondary iron overload can lead to chronic liver disease and cirrhosis [Hilgard 2005]

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Pyruvatkinase-Mangel der Erythrozyten; Hämolytische Anämie durch Mangel der erythrozytären Pyruvatkinase

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 266200

Question 4

Which enzymes are involved?

Accepted Answer

Pyruvate kinase PKLR

Disease	PYRUVATE KINASE DEFICIENCY
Synonym	PYRUVATE KINASE DEFICIENCY OF ERYTHROCYTE; PK DEFICIENCY
OMIM	266200 OMIM = Online Mendelian Inheritance of Men
Orphanet	766
Protein (UniProt)	Pyruvate kinase PKLR
ExPASy	2.7.1.40
Gene locus	1q22
ICD	D55.2
Summary	rare autosomal recessive most common enzymopathy of anaerobic glycolysis causing hemolytic anemia, more than 130 different mutations secondary iron overload can lead to chronic liver disease and cirrhosis [Hilgard 2005]
Laboratory findings	Bilirubin inc (serum) Pyruvate kinase dec (erythrocytes) Retikulocytes inc (blood) Thrombocytes, Platelets inc (blood)
Symptoms	anemia cirrhosis or fibrosis of liver gallstones, cholelithiasis hemolytic anemia hydrops fetalis jaundice onset, fetus onset, infancy onset, neonatal splenomegaly (large spleen)