Urea cycle disorder—argininosuccinic lyase deficiency

Mehta, Neeta; Kirk, Pia Chatterjee; Holder, Ray; Precheur, Harry V.

doi:10.1111/j.1754-4505.2012.00263.x

Cited by 3 publications

(3 citation statements)

References 17 publications

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“…Food intake and absorption may also contribute to the blood citrulline level [ 36 ]. Unlike other inherited urea cycle disorders [ 16 , 37 – 40 ], the increase in blood citrulline level in HD patients is moderate [ 13 ] ( Fig 2 ) and is more likely to be affected by the contributions of other organs such as the intestine. The surprising inverse relationship between blood citrulline concentration and disease duration ( S2 Fig ) also implies that the nutritional status of HD patients, especially in the end stage, might influence the blood citrulline level.…”

Section: Discussionmentioning

confidence: 98%

High Protein Diet and Huntington's Disease

Chen

Lin

et al. 2015

PLoS ONE

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Huntington’s disease (HD) is a neurodegenerative disorder caused by the huntingtin (HTT) gene with expanded CAG repeats. In addition to the apparent brain abnormalities, impairments also occur in peripheral tissues. We previously reported that mutant Huntingtin (mHTT) exists in the liver and causes urea cycle deficiency. A low protein diet (17%) restores urea cycle activity and ameliorates symptoms in HD model mice. It remains unknown whether the dietary protein content should be monitored closely in HD patients because the normal protein consumption is lower in humans (~15% of total calories) than in mice (~22%). We assessed whether dietary protein content affects the urea cycle in HD patients. Thirty HD patients were hospitalized and received a standard protein diet (13.7% protein) for 5 days, followed by a high protein diet (HPD, 26.3% protein) for another 5 days. Urea cycle deficiency was monitored by the blood levels of citrulline and ammonia. HD progression was determined by the Unified Huntington’s Disease Rating Scale (UHDRS). The HPD increased blood citrulline concentration from 15.19 μmol/l to 16.30 μmol/l (p = 0.0378) in HD patients but did not change blood ammonia concentration. A 2-year pilot study of 14 HD patients found no significant correlation between blood citrulline concentration and HD progression. Our results indicated a short period of the HPD did not markedly compromise urea cycle function. Blood citrulline concentration is not a reliable biomarker of HD progression.

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Section: Discussionmentioning

confidence: 98%

High Protein Diet and Huntington's Disease

Chen

Lin

et al. 2015

PLoS ONE

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“…6 Limited fasting tolerance occurs as a predominant feature in a multitude of IEM, particularly the hepatic glycogen storage disorders and fatty acid oxidation disorders, but also others such as, organic acidaemias, maple syrup urine disease (MSUD) and urea cycle disorders. 44,73,74 Paediatric patients requiring metabolic formulas as part of their normal oral intake or emergency regimes in the instance of a limited fasting tolerance often have an elevated caries risk since these formulas are typically high in carbohydrates that sugar and therefore not conducive to optimal oral health. For this specific cohort of patients, the importance of regular dental examinations, fluoride therapy, intensive oral hygiene instruction ± fissure sealants cannot be overemphasised to mitigate the dietary risk.…”

Section: Considerations In the Dental Management Of Metabolic Disordersmentioning

confidence: 99%

“…The requirement for emergency regimes can particularly be seen in maple syrup urine disease (MSUD), propionic acidaemia (PA), methylmalonic acidaemia (MMA), fatty acid oxidation disorders and urea cycle disorders 6 . Limited fasting tolerance occurs as a predominant feature in a multitude of IEM, particularly the hepatic glycogen storage disorders and fatty acid oxidation disorders, but also others such as, organic acidaemias, maple syrup urine disease (MSUD) and urea cycle disorders 44,73,74 . Paediatric patients requiring metabolic formulas as part of their normal oral intake or emergency regimes in the instance of a limited fasting tolerance often have an elevated caries risk since these formulas are typically high in carbohydrates that sugar and therefore not conducive to optimal oral health.…”

Section: Introductionmentioning

confidence: 99%

Inborn errors of metabolism and their impact in paediatric dentistry

Hirst

Chakrapani

Mubeen

2022

J of Inher Metab Disea

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The management of paediatric patients with inborn errors of metabolism (IEM) presents an unparalleled challenge for paediatric dentists owing to the multiplex of interrelated dental manifestations and metabolic management necessitating modifications to dental care. Inborn errors of metabolism describe a largely heterogenous group of genetic disorders namely attributable to a single gene defect essential for a specific metabolic pathway. Approximately 400 disorders have been described with an overall incidence of 1 in 5000 live births worldwide. Clinical presentation is classically inconspicuous and insidious in the neonatal period with pathophysiology attributable to accumulation of toxic by‐products which interfere with normal function, or insufficient synthesis of essential compounds. This paper aims to discuss the primary oral and maxillofacial manifestations across the scope of inborn errors of metabolism, whilst also considering how metabolic treatment has the propensity to complicate dental management.

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Guidelines for acute management of hyperammonemia in the Middle East region

Alfadhel¹,

Mutairi²,

Makhseed³

et al. 2016

TCRM

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BackgroundHyperammonemia is a life-threatening event that can occur at any age. If treated, the early symptoms in all age groups could be reversible. If untreated, hyperammonemia could be toxic and cause irreversible brain damage to the developing brain.ObjectiveThere are major challenges that worsen the outcome of hyperammonemic individuals in the Middle East. These include: lack of awareness among emergency department physicians about proper management of hyperammonemia, strained communication between physicians at primary, secondary, and tertiary hospitals, and shortage of the medications used in the acute management of hyperammonemia. Therefore, the urge to develop regional guidelines is extremely obvious.MethodWe searched PubMed and Embase databases to include published materials from 2011 to 2014 that were not covered by the European guidelines, which was published in 2012. We followed the process of a Delphi conference and involved one preliminary meeting and two follow-up meetings with email exchanges between the Middle East Hyperammonemia and Urea Cycle Disorders Scientific Group regarding each draft of the manuscript.Results and discussionWe have developed consensus guidelines based on the highest available level of evidence. The aim of these guidelines is to homogenize and harmonize the treatment protocols used for patients with acute hyperammonemia, and to provide a resource to not only metabolic physicians, but also physicians who may come in contact with individuals with acute hyperammonemia.ConclusionThese suggested guidelines aim to ease the challenges faced by physicians dealing with acute hyperammonemia in the region. In addition, guidelines have demonstrated useful collaboration between experts in the region, and provides information that will hopefully improve the outcomes of patients with acute hyperammonemia.

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Urea cycle disorder—argininosuccinic lyase deficiency

Cited by 3 publications

References 17 publications

High Protein Diet and Huntington's Disease

High Protein Diet and Huntington's Disease

Inborn errors of metabolism and their impact in paediatric dentistry

Guidelines for acute management of hyperammonemia in the Middle East region

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