KEGG DISEASE: フェニルケトン尿症

DISEASE: フェニルケトン尿症

エントリ

H00167

名称

フェニルケトン尿症;
高フェニルアラニン血症

下位グループ

BH4欠損症によるフェニルアラニン血症 (HPABH4)
BH4欠損症を伴わない軽度高フェニルアラニン血症 (HPANBH4)

概要

Phenylketonuria (PKU) is one of the most common inborn errors of metabolism marked by a deficiency of the hepatic enzyme phenylalanine hydroxylase (PAH), leading to a toxic accumulation of phenylalanine in the blood and multiple tissues and potentially to intellectual disability, delayed speech, seizures, and behavior abnormalities. Deficiency of tetrahydrobiopterin (BH4), the cofactor of PAH, is caused by defects of the enzymes in pterin biosynthesis. Because BH4 is also a cofactor of tyrosine hydroxylase and tryptophan hydroxylase in neurotransmitter synthesis, BH4-deficient hyperphenylalaninemia is characterized by neurotransmitter deficiencies.

カテゴリ

先天性代謝異常症

階層分類

ICD-11 による疾患分類 [BR:jp08403]
05 内分泌, 栄養, 代謝の疾患
  代謝疾患
   先天性代謝異常
    5C50  アミノ酸または他の有機酸代謝の先天性異常
     H00167  フェニルケトン尿症
パスウェイに基づく疾患分類 [BR:jp08402]
アミノ酸代謝
  nt06016  フェニルアラニンとチロシンの代謝
   H00167  フェニルケトン尿症
指定難病 [jp08407.html]
H00167

パスウェイ

hsa00790

Folate biosynthesis

hsa00400

Phenylalanine, tyrosine and tryptophan biosynthesis

ネットワーク

nt06016 Phenylalanine and tyrosine metabolism

病因遺伝子

(PKU) PAH [HSA:5053] [KO:K00500]
(HPABH4A) PTS [HSA:5805] [KO:K01737]
(HPABH4B) GCH1 [HSA:2643] [KO:K01495]
(HPABH4C) QDPR [HSA:5860] [KO:K00357]
(HPABH4D) PCBD1 [HSA:5092] [KO:K01724]
(HPANBH4) DNAJC12 [HSA:56521] [KO:K09532]

治療薬

特殊粉乳 [DR:D08831]
ペグバリアーゼ [DR:D11077]
サプロプテリン塩酸塩 [DR:D01798]

リンク

ICD-11:

5C50.0

MeSH:

D010661

OMIM:

261600 261640 233910 261630 264070 617384

文献

PMID:23430527

著者

Lindegren ML, Krishnaswami S, Reimschisel T, Fonnesbeck C, Sathe NA, McPheeters ML

タイトル

A Systematic Review of BH4 (Sapropterin) for the Adjuvant Treatment of Phenylketonuria.

雑誌

JIMD Rep 8:109-19 (2013)
DOI:10.1007/8904_2012_168

文献

PMID:18538294 (PKU)

著者

Gersting SW, Kemter KF, Staudigl M, Messing DD, Danecka MK, Lagler FB, Sommerhoff CP, Roscher AA, Muntau AC

タイトル

Loss of function in phenylketonuria is caused by impaired molecular motions and conformational instability.

雑誌

Am J Hum Genet 83:5-17 (2008)
DOI:10.1016/j.ajhg.2008.05.013

文献

PMID:8178819 (HPABH4A)

著者

Thony B, Leimbacher W, Blau N, Harvie A, Heizmann CW

タイトル

Hyperphenylalaninemia due to defects in tetrahydrobiopterin metabolism: molecular characterization of mutations in 6-pyruvoyl-tetrahydropterin synthase.

雑誌

Am J Hum Genet 54:782-92 (1994)

文献

PMID:7869202 (HPABH4B)

著者

Blau N, Ichinose H, Nagatsu T, Heizmann CW, Zacchello F, Burlina AB

タイトル

A missense mutation in a patient with guanosine triphosphate cyclohydrolase I deficiency missed in the newborn screening program.

雑誌

J Pediatr 126:401-5 (1995)
DOI:10.1016/s0022-3476(95)70458-2

文献

PMID:2116088 (HPABH4C)

著者

Howells DW, Forrest SM, Dahl HH, Cotton RG

タイトル

Insertion of an extra codon for threonine is a cause of dihydropteridine reductase deficiency.

雑誌

Am J Hum Genet 47:279-85 (1990)

文献

PMID:8352282 (HPABH4D)

著者

Citron BA, Kaufman S, Milstien S, Naylor EW, Greene CL, Davis MD

タイトル

Mutation in the 4a-carbinolamine dehydratase gene leads to mild hyperphenylalaninemia with defective cofactor metabolism.

雑誌

Am J Hum Genet 53:768-74 (1993)

文献

PMID:28132689 (HPANBH4)

著者

Anikster Y, Haack TB, Vilboux T, Pode-Shakked B, Thony B, Shen N, Guarani V, Meissner T, Mayatepek E, Trefz FK, Marek-Yagel D, Martinez A, Huttlin EL, Paulo JA, Berutti R, Benoist JF, Imbard A, Dorboz I, Heimer G, Landau Y, Ziv-Strasser L, Malicdan MCV, Gemperle-Britschgi C, Cremer K, Engels H, Meili D, Keller I, Bruggmann R, Strom TM, Meitinger T, Mullikin JC, Schwartz G, Ben-Zeev B, Gahl WA, Harper JW, Blau N, Hoffmann GF, Prokisch H, Opladen T, Schiff M

タイトル

Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability.

雑誌

Am J Hum Genet 100:257-266 (2017)
DOI:10.1016/j.ajhg.2017.01.002

LinkDB

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