ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY (APRT)

Question 1

What is  ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY (APRT)?

Accepted Answer

rare
autosomal recessive

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Adenin-Phosphoribosyl-Transferasemangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 614723

Question 4

Which enzymes are involved?

Accepted Answer

adenine phosphoribosyltransferase

Disease	ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY (APRT)
Synonym	ADENINE PHOSPHORIBOSYLTRANSFERASE; ADENINE PHOSPHO-RIBOSYL-TRANSFERASE (APRT) DEFICIENCY
OMIM	614723 OMIM = Online Mendelian Inheritance of Men
Orphanet	976
Protein (UniProt)	adenine phosphoribosyltransferase
ExPASy	2.4.2.7
Gene locus	16q24.3
ICD	E79.8
Summary	rare autosomal recessive
Laboratory findings	2,8-Dihydroxyadenine inc (urine) Adenine inc (urine)
Symptoms	renal failure, acute renal failure, chronic hematuria infections (urinary tract) no clinical symptoms (probably) onset, childhood onset, infancy onset, neonatal pain, abdominal proteinuria renal colic urine crystals urolithiasis, nephrolithiasis, kidney stones