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APRT deficiency, Japanese type

MedGen UID:: 82773
•Concept ID:: C0268121
•: Disease or Syndrome

Synonym:	APRT DEFICIENCY, JAPANESE TYPE
SNOMED CT:	APRT deficiency, Japanese type (65791008); Adenine phosphoribosyltransferase (APRT) deficiency, Japanese type (65791008); Adenine phosphoribosyltransferase deficiency, Japanese type (65791008)

OMIM®:	102600

Recent clinical studies

Etiology

Crossovers within a short DNA sequence indicate a long evolutionary history of the APRT*J mutation.

Kamatani N, Kuroshima S, Hakoda M, Palella TD, Hidaka Y
Hum Genet 1990 Oct;85(6):600-4. doi: 10.1007/BF00193582. PMID: 2227951

Diagnosis

Detection of an amino acid substitution in the mutant enzyme for a special type of adenine phosphoribosyltransferase (APRT) deficiency by sequence-specific protein cleavage.

Kamatani N, Kuroshima S, Terai C, Hidaka Y, Palella TD, Nishioka K
Am J Hum Genet 1989 Aug;45(2):325-31. PMID: 2502918 Free PMC Article

Erythrocyte adenine PRPP availability in two types of APRT deficiency using silicon oil method.

Takeuchi F, Kamatani N, Nishida Y, Miyamoto T
Adv Exp Med Biol 1989;253A:35-41. doi: 10.1007/978-1-4684-5673-8_6. PMID: 2483030

Selection of human cells having two different types of mutations in individual cells (genetic/artificial mutants). Application to the diagnosis of the heterozygous state for a type of adenine phosphoribosyltransferase deficiency.

Kamatani N, Kuroshima S, Terai C, Kawai K, Mikanagi K, Nishioka K
Hum Genet 1987 Jun;76(2):148-52. doi: 10.1007/BF00284912. PMID: 3610146

Prognosis

A case of a compound heterozygote for adenine phosphoribosyltransferase deficiency (APRT*J/APRT*Q0) leading to 2,8-dihydroxyadenine urolithiasis: review of the reported cases with 2,8-dihydroxyadenine stones in Japan.

Takeuchi H, Kaneko Y, Fujita J, Yoshida O
J Urol 1993 Apr;149(4):824-6. doi: 10.1016/s0022-5347(17)36222-5. PMID: 8455250

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