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Literature DB >> 10799432

Under recognition of late onset ornithine transcarbamylase deficiency.

Abstract

Late onset ornithine transcarbamylase deficiency (McKusick 311250) is reported in four Finnish patients, two boys and two heterozygous girls. The subtle onset and course of ornithine transcarbamylase deficiency emphasises the need for plasma ammonia and amino acid measurements in clinical situations suggesting a disorder of this nature.

Entities: Chemical Disease Gene Mutation Species

Mesh：

Substances：
Alanine Transaminase

Year: 2000 PMID： 10799432 PMCID： PMC1718304 DOI： 10.1136/adc.82.5.390

Source DB: PubMed Journal: Arch Dis Child ISSN： 0003-9888 Impact factor: 3.791

6 in total

1. A 3-base pair in-frame deletion in exon 8 (delGlu272/273) of the ornithine transcarbamylase gene in late-onset hyperammonemic coma.

Authors: B Ségues; P S Veber; D Rabier; P Calvas; J M Saudubray; B Gilbert-Dussardier; J P Bonnefont; A Munnich
Journal: Hum Mutat Date: 1996 Impact factor: 4.878

2. Late-onset ornithine transcarbamylase deficiency in male patients.

Authors: J E Finkelstein; E R Hauser; C O Leonard; S W Brusilow
Journal: J Pediatr Date: 1990-12 Impact factor: 4.406

3. Improved molecular diagnostics for ornithine transcarbamylase deficiency.

Authors: M Grompe; C T Caskey; R G Fenwick
Journal: Am J Hum Genet Date: 1991-02 Impact factor: 11.025

4. Asymptomatic and late-onset ornithine transcarbamylase (OTC) deficiency in males of a five-generation family, caused by an A208T mutation.

Authors: O P van Diggelen; J Zaremba; W He; J L Keulemans; A M Boer; A J Reuser; M G Ausems; J A Smeitink; J Kowalczyk; E Pronicka; D Rokicki; E Tarnowska-Dziduszko; A L Kneppers; E Bakker
Journal: Clin Genet Date: 1996-11 Impact factor: 4.438

6. Ornithine transcarbamylase deficiency combined with type 1 diabetes mellitus - a challenge in clinical and dietary management.

Authors: Sarah C Grünert; Pablo Villavicencio-Lorini; Bendicht Wermuth; Willy Lehnert; Jörn Oliver Sass; K Otfried Schwab
Journal: J Diabetes Metab Disord Date: 2013-07-05

6 in total

Under recognition of late onset ornithine transcarbamylase deficiency.

1. A 3-base pair in-frame deletion in exon 8 (delGlu272/273) of the ornithine transcarbamylase gene in late-onset hyperammonemic coma.

2. Late-onset ornithine transcarbamylase deficiency in male patients.

3. Improved molecular diagnostics for ornithine transcarbamylase deficiency.

4. Asymptomatic and late-onset ornithine transcarbamylase (OTC) deficiency in males of a five-generation family, caused by an A208T mutation.

5. Ornithine transcarbamylase deficiency: characterization of gene mutations and polymorphisms.

6. The biochemical and molecular spectrum of ornithine transcarbamylase deficiency.

Review 1. Ornithine carbamoyltransferase deficiency.

2. Significant hepatic involvement in patients with ornithine transcarbamylase deficiency.

3. Acute hyperammonemic encephalopathy in adult onset ornithine transcarbamylase deficiency.

4. Hyperammonemia-induced encephalopathy: A rare devastating complication of bariatric surgery.

Review 5. Clinical and experimental applications of sodium phenylbutyrate.

6. Ornithine transcarbamylase deficiency combined with type 1 diabetes mellitus - a challenge in clinical and dietary management.