[MIM 278 300, 603 592]

Very rare. Abnormal metabolism of purines. Rare cause of urinary lithiasis. Autosomal recessive transmission.

Three types:

-        type 1: xanthine dehydrogenase (or xanthine oxidase) deficiency: mutation of the XDH gene on 2p22-23. This deficiency leads to blockade of the production of uric acid from hypoxanthine and xanthine and causes hypo-uricemia (not to be confused with hereditary renal hypo-uricemia, see this term) and a hypo-uricosuria. Asymptomatic in 30% of cases. Main symptoms: crises of renal colic caused by xanthine calculi, hematuria, sometimes muscle pain (deposits of crystals in muscles) and renal failure in case of repeated infections

-        type 2: deficit in xanthine dehydrogenase and xanthine aldehyde oxidase, following a transfer of the HMCS gene (18q12.2), which codes for the cofactor of molybdenum sulfurase

-        type 3: deficit in xanthine dehydrogenase, xanthine-aldehyde-oxydase and sulfite oxidase due to a mutation of the MOCS1 or MOCS2 genes responsible for the biosynthesis of molybdenum sulfurase

Type 3 (sometimes type 2) causes neurological abnormalities the infantile mortality of which is high (see molybdenum cofactor deficiency): convulsions, hypotonia, severe mental retardation.

Treatment of types 1 and 2 : hyperhydration and alkalinization of urine (0.2 g/kg/day of NaHCO3 in 3 doses)

Anesthetic implications:

monitor renal function; Type 1: ensure adequate perioperative hydration; types 2 and 3: on the basis of the neurological sequelae

References :  

• Diss M, Ranchin B, Broly F, Potter N, Cochat P.
  Xanthinurie héréditaire de type 1: à propos de trois cas.
  Arch Pédiatr 2015 ; 22 :1288-91.

Updated: March 2019