- 同
- APRT
WordNet
- (biochemistry) purine base found in DNA and RNA; pairs with thymine in DNA and with uracil in RNA (同)A
PrepTutorEJDIC
- 〈U〉〈C〉(…の)(量・額などの)不足,欠乏《+『of』(『in』)+『名』》 / 〈C〉不足分,不足量,不足額 / 〈C〉(精神・肉体などの)欠陥
- アデニン(肝臓・茶の葉から採れる塩基の一種)
Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/06/15 10:09:46」(JST)
[Wiki en表示]
| Adenine phosphoribosyltransferase deficiency |
|
Dihydroxyadenine, an insoluble purine
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| Classification and external resources |
| ICD-10 |
E79 |
| ICD-9 |
277.2 |
| OMIM |
102600 |
| DiseasesDB |
32632 |
Adenine phosphoribosyltransferase deficiency (also called APRT deficiency or 2,8 dihydroxyadenine urolithiasis) is an autosomal recessive[1] metabolic disorder associated with a mutation in the enzyme adenine phosphoribosyltransferase.[2]
Contents
- 1 Characteristics
- 2 Genetics
- 3 Signs and symptoms
- 4 References
- 5 External links
Characteristics
The disorder results in accumulation of the insoluble purine 2,8-dihydroxyadenine.[3]
It can result in nephrolithiasis (kidney stones), acute renal failure and permanent kidney damage.
More than 300 individuals with this disease have been reported world-wide but it is not known how common this medical problem truly is. Patients with the disease deficiency lack the enzyme adenine phosphoribosyltransferase and therefore have difficulties breaking down dietary substances called purines, resulting in accumulation of a compound called 2,8-dihydroxyadenine (2,8-DHA) that is excreted by the kidneys. Interestingly, up to 70% of affected patients, have red hair or relatives with this hair color.
Genetics
Adenine phosphoribosyltransferase deficiency has an autosomal recessive pattern of inheritance.
APRT deficiency is inherited in an autosomal recessive manner.[1] This means the defective gene responsible for the disorder is located on an autosome, and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder. The parents of an individual with an autosomal recessive disorder both carry one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder.
Signs and symptoms
Most patients with APRT deficiency have repeated episodes of kidney stones that are not detected by a conventional x-ray study. However, all stones are easily detected by other medical imaging methods such as ultrasound or computerized tomography (CT) scan. A minority of patients develop symptoms of kidney failure. Kidney stones are often associated with severe loin or abdominal pain. Symptoms associated with kidney failure are largely nonspecific such as increased fatigue and weakness, poor appetite, and weight loss. Children with the disease may have similar symptoms as adults. In young children, APRT deficiency can cause reddish-brown diaper spots.
References
- ^ a b Kamatani, N (December 1996). "Adenine phosphoribosyltransferase(APRT) deficiency" (FREE FULL TEXT). Nippon rinsho. Japanese journal of clinical medicine 54 (12): 3321–7. ISSN 0047-1852. PMID 8976113.
- ^ Terai, C; Hakoda, M; Yamanaka, H; Kamatani, N; Okai, M; Takahashi, F; Kashiwazaki, S (November 1995). "Adenine phosphoribosyltransferase deficiency identified by urinary sediment analysis: cellular and molecular confirmation". Clinical genetics 48 (5): 246–50. doi:10.1111/j.1399-0004.1995.tb04098.x. ISSN 0009-9163. PMID 8825602.
- ^ Funato, T; Nishiyama, Y; Ioritani, N; Matsuki, R; Yoshida, K; Kaku, M; Sasaki, T; Ideguchi, H; Ono, J (2000). "Detection of mutations in adenine phosphoribosyltransferase (APRT) deficiency using the LightCycler system". Journal of clinical laboratory analysis 14 (6): 274–9. doi:10.1002/1098-2825(20001212)14:6<274::AID-JCLA5>3.0.CO;2-2. ISSN 0887-8013. PMID 11138609.
External links
- Adenine phosphoribosyltransferase deficiency at NIH's Office of Rare Diseases
- APRT at the Rare Kidney Stones Consortium
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Inborn error of purine-pyrimidine metabolism (E79, 277.2)
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| Purine metabolism |
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Anabolism
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- Adenylosuccinate lyase deficiency
- Adenosine Monophosphate Deaminase Deficiency type 1
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Nucleotide salvage
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- Lesch-Nyhan syndrome/Hyperuricemia
- Adenine phosphoribosyltransferase deficiency
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Catabolism
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- Adenosine deaminase deficiency
- Purine nucleoside phosphorylase deficiency
- Xanthinuria
- Gout
- Mitochondrial neurogastrointestinal encephalopathy syndrome
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| Pyrimidine metabolism |
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Anabolism
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- Orotic aciduria
- Miller syndrome
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Catabolism
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- Dihydropyrimidine dehydrogenase deficiency
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Index of inborn errors of metabolism
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| Description |
- Metabolism
- Enzymes and pathways: citric acid cycle
- pentose phosphate
- glycoproteins
- glycosaminoglycans
- phospholipid
- cholesterol and steroid
- sphingolipids
- eicosanoids
- amino acid
- urea cycle
- nucleotide
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| Disorders |
- Citric acid cycle and electron transport chain
- Glycoprotein
- Proteoglycan
- Fatty-acid
- Phospholipid
- Cholesterol and steroid
- Eicosanoid
- Amino acid
- Purine-pyrimidine
- Heme metabolism
- Symptoms and signs
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| Treatment |
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UpToDate Contents
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English Journal
- Unexpectedly high prevalence of rare genetic disorders in kidney transplant recipients with an unknown causal nephropathy.
- Quaglia M1, Musetti C, Ghiggeri GM, Fogazzi GB, Settanni F, Boldorini RL, Lazzarich E, Airoldi A, Izzo C, Giordano M, Stratta P.
- Clinical transplantation.Clin Transplant.2014 Sep;28(9):995-1003. doi: 10.1111/ctr.12408. Epub 2014 Jul 18.
- BACKGROUND: Patients with a rare genetic disease may receive renal transplantation (KTx) without a correct diagnosis of causal nephropathy and therefore develop unexpected and even severe complications. The aim of the study was to describe the cases of rare genetic disorders diagnosed after KTx, in
- PMID 24961278
- Febuxostat in adenosine phosphoribosyltransferase deficiency.
- Arnadóttir M1.
- American journal of kidney diseases : the official journal of the National Kidney Foundation.Am J Kidney Dis.2014 Aug;64(2):316. doi: 10.1053/j.ajkd.2014.04.026. Epub 2014 Jun 3.
- PMID 24932691
- Adenine phosphoribosyltransferase (APRT) deficiency: identification of a novel nonsense mutation.
- Valaperta R1, Rizzo V, Lombardi F, Verdelli C, Piccoli M, Ghiroldi A, Creo P, Colombo A, Valisi M, Margiotta E, Panella R, Costa E.
- BMC nephrology.BMC Nephrol.2014 Jul 1;15:102. doi: 10.1186/1471-2369-15-102.
- BACKGROUND: Adenine phosphoribosyltransferase deficiency (APRTD) is an under estimated genetic form of kidney stones and/or kidney failure, characterized by intratubular precipitation of 2,8-dihydroxyadenine crystals (2,8-DHA). Currently, five pathologic allelic variants have been identified as resp
- PMID 24986359
Japanese Journal
- 2,8-Dihydroxyadenine結石症の1例
- 痙攣と精神運動遅滞を主訴としたhypoxanthine-guanine phosphoribosyltransferase部分欠損症の1例
- 臨床研究・症例報告 血尿を契機に発見されたAdenine phosphoribosyltransferase欠損症による2,8-dihydroxyadenine結石の1例
Related Links
- Adenine phosphoribosyltransferase (APRT) deficiency is an inherited condition that affects the kidneys and urinary tract. The most common feature of this condition is recurrent kidney stones; urinary tract stones are also ...
- 1. Clin J Am Soc Nephrol. 2012 Sep;7(9):1521-7. Epub 2012 Jun 14. Adenine phosphoribosyltransferase deficiency. Bollée G(1), Harambat J, Bensman A, Knebelmann B, Daudon M, Ceballos-Picot I. Author ...
★リンクテーブル★
[★]
- 英
- adenine phosphoribosyltransferase, APRT
- 関
- HGPRT
- AMPのサルベージ経路において、アデニンと5-ホスホリボシル二リン酸からAMPを生成する酵素
- アデニン ＋ PRPP ⇔ AMP ＋ PPi
臨床関連
[★]
- 英
- adenine phosphoribosyltransferase deficiency
- 関
- 2,8-ジヒドロキシアデニン結石症
[★]
- 不足、欠乏、欠失、欠如、欠損、不十分。栄養不足、栄養素欠乏、欠乏症。(遺伝子)(染色体内の)遺伝子欠失
- 欠けているもの、不足している物。不足分。不完全なもの、欠点のあるもの
- 関
- absence, agenesis, dearth, defect, defective, deficient, deficit, delete, deletion, deletional, depletion, deprivation, deprive, lack, miss, missing, morphological defect, paucity, scarce, scarcity, starve
[★]
ホスホリボシルトランスフェラーゼ、ホスホリボシル基転移酵素
[★]
アデニンホスホリボシルトランスフェラーゼ
- 同
- APRT