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CPS 1 Deficiency

MedGen UID:
900766
•Concept ID:
C4085580
•
Disease or Syndrome
Synonyms: Carbamoyl Phosphate Synthase 1 Deficiency; Carbamoyl Phosphate Synthetase I Deficiency; Carbamyl Phosphate Synthetase (CPS) Deficiency; CPS 1 Deficiencies; CPS I Deficiencies; CPS I Deficiency

Professional guidelines

PubMed

Long-term follow-up of children with carbamoyl phosphate synthase 1 deficiency detected in newborn screening.
Zhang Z, Tong F, Chen C, Zhang T, Qian G, Yang X, Huang X, Yang R, Zhao Z
Zhejiang Da Xue Xue Bao Yi Xue Ban 2023 Nov 14;52(6):721-726. doi: 10.3724/zdxbyxb-2023-0359. PMID: 37986659Free PMC Article
Targeting CPS1 in the treatment of Carbamoyl phosphate synthetase 1 (CPS1) deficiency, a urea cycle disorder.
Diez-Fernandez C, Häberle J
Expert Opin Ther Targets 2017 Apr;21(4):391-399. Epub 2017 Feb 20 doi: 10.1080/14728222.2017.1294685. PMID: 28281899
High-volume continuous venovenous hemofiltration as an effective therapy for acute management of inborn errors of metabolism in young children.
Lai YC, Huang HP, Tsai IJ, Tsau YK
Blood Purif 2007;25(4):303-8. Epub 2007 Jul 20 doi: 10.1159/000106102. PMID: 17643056

Recent clinical studies

Diagnosis

A case of hyperinsulinism/hyperammonaemia syndrome with reduced carbamoyl-phosphate synthetase-1 activity in liver: a pitfall in enzymatic diagnosis for hyperammonaemia.
Ihara K, Miyako K, Ishimura M, Kuromaru R, Wang HY, Yasuda K, Hara T
J Inherit Metab Dis 2005;28(5):681-7. doi: 10.1007/s10545-005-0084-z. PMID: 16151898
Genetic analysis of carbamoylphosphate synthetase I and ornithine transcarbamylase deficiency using fibroblasts.
Rapp B, Häberle J, Linnebank M, Wermuth B, Marquardt T, Harms E, Koch HG
Eur J Pediatr 2001 May;160(5):283-7. doi: 10.1007/s004310100725. PMID: 11388595

Prognosis

A successful liver transplantation in a patient with neonatal-onset carbamoyl phosphate synthetase-1 deficiency.
Arslan S, Kocaoğlu İ, Yaralı O, Abuşoğlu Y, Kahveci H, Gökçe S, Kargı A, Aslan S, Yazar Ş, Polat KY
J Pediatr Endocrinol Metab 2024 Oct 28;37(10):924-929. Epub 2024 Aug 19 doi: 10.1515/jpem-2024-0240. PMID: 39158197
Genetic analysis of carbamoylphosphate synthetase I and ornithine transcarbamylase deficiency using fibroblasts.
Rapp B, Häberle J, Linnebank M, Wermuth B, Marquardt T, Harms E, Koch HG
Eur J Pediatr 2001 May;160(5):283-7. doi: 10.1007/s004310100725. PMID: 11388595

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