Fatal coma in a young adult due to late-onset urea cycle deficiency presenting with a prolonged seizure: a case report

Alameri, Majid; Shakra, Mustafa; Alsaadi, Taoufik

doi:10.1186/s13256-015-0741-2

Cited by 18 publications

(14 citation statements)

References 11 publications

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“…Case 9. Alameri et al [17]: 17-year-old white (Emirati) male presented with 6 minute generalized tonic-clonic seizure following a week of generalized malaise with intermittent vomiting without fever, chills, diarrhea, or shortness of breath. He had started on a high-protein supplement 1 week prior to developing these symptoms.…”

Section: Resultsmentioning

confidence: 99%

Late Onset Ornithine Transcarbamylase Deficiency Triggered by an Acute Increase in Protein Intake: A Review of 10 Cases Reported in the Literature

Barkovich

Gropman

2020

Case Reports in Genetics

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While the urea cycle disorders (UCDs) classically present in the neonatal stage, they have become increasingly recognized as a rare cause of unexplained hyperammonemic encephalopathy in adults. Many metabolic triggers for late-onset UCDs have been described in the literature including excessive protein intake. In this case series, ten such documented cases are reviewed with analysis of patient demographic, protein load, treatment course, and patient outcome. Common delays in treatment include recognition of hyperammonemia as the cause of encephalopathy and initiation of hemodialysis. In only one case was a diet history used to raise suspicion for a metabolic derangement. Metabolic disorders remain an important consideration in adults presenting with encephalopathy not explained by more common etiologies, and recent and remote dietary history may provide valuable information.

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Section: Resultsmentioning

confidence: 99%

Late Onset Ornithine Transcarbamylase Deficiency Triggered by an Acute Increase in Protein Intake: A Review of 10 Cases Reported in the Literature

Barkovich

Gropman

2020

Case Reports in Genetics

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“…HE is a severe condition that must be suspected in patients that present progressive neurocognitive disorders, seizures and coma even in the absence of liver failure [38]. Rapid onset non-cirrhotic HE in adults can lead to signi cant brain injury, sequelae and in most of the cases proves to be fatal [39,40].…”

Section: Discussionmentioning

confidence: 99%

Molecular Basis of Hyperammonemic Encephalopathy in Fibrolamellar Hepatocellular Carcinoma

Surjan

Lima

Santos

et al. 2021

Preprint

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Purpose hyperammonemic encephalopathy is a potentially fatal condition associated with fibrolamellar hepatocellular carcinoma. The mechanism involved in hyperammonemia in patients with fibrolamellar carcinoma was unclear until a possible physiopathological pathway was recently proposed. An ornithine transcarboxylase dysfunction was suggested as a result of increased ornithine decarboxylase activity induced by c-Myc overexpression. This c-Myc overexpression resulted from Aurora Kinase A overexpression derived from the activity of a chimeric kinase that is the final transcript of a deletion in chromosome 19, common to all fibrolamellar carcinomas. Methods we performed the analysis of the expression of all enzymes involved and tested for the mutation in chromosome 19 in fresh frozen samples of fibrolamellar hepatocellular carcinoma, non-tumor liver and hepatic adenomatosis. Results specific DNAJB-PRKACA fusion protein that results from the recurrent mutation on chromosome 19 common to all fibrolamellar carcinoma was detected only in the fibrolamellar carcinoma sample. Fibrolamellar carcinoma and adenomiomatosis samples presented increased expression of Aurora Kinase A, c-MYC and ornithine decarboxylase when compared to normal liver, while ornithine transcarbamylase was decreased. Conclusion The proposed physiopathological pathway is correct and that overexpression of c-Myc may also be responsible of hyperammonemia in patients with other types of rapidly growing hepatomas. This gives further evidence to apply new and adequate treatment to this severe complication.

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“…Neurological symptoms include convulsions, behavioral abnormalities, irritability, cognitive decline, and unexplained hyperammonemic coma. [6,7,8,9] Hyperammonemia after parturition in a female patient with OTCD can be fatal. Therefore, it is important to perform an early intervention before hyperammonemia occurs in patients with OTCD or in carriers after parturition [10] …”

Section: Discussionmentioning

confidence: 99%

Clinical and cranial MRI features of female patients with ornithine transcarbamylase deficiency

Mowshica

et al. 2019

Medicine

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Introduction:Ornithine transcarbamylase deficiency (OTCD) is a common metabolic disease of urea circulation disorder. We reported the clinical, brain imaging and genetic characteristics of 2 cases with OTCD. The patients’ clinical features, novel gene mutations, cranial MR specific imaging changes and blood tandem mass spectrometry, and urine gas chromatography-mass spectrometry were, retrospectively, analyzed.Patient concerns:Patient 1 was a 1.6-year-old female. She was admitted to the hospital with 2-months history of general irritability and disturbance of consciousness for a day. Patient 2 was a 3.7-year-old female. She was admitted to the hospital due to decline of language ability and irritability for 5 days. Blood tandem mass spectrometry and urine gas chromatography-mass spectrometry showed uracil and orotate increased significantly in urine while amino acids in the urea cycle ring were in the normal range. The features of brain MRI are consistent with those of urea circulatory disorders. Gene detection showed 1 novel mutation in the OTC gene (c.658C>T) in patient 1 and, 1 novel mutation (c.298+2T>G) in the OTC gene in patient 2.Diagnosis:Combined with metabolic screening and gene detection, both patients were diagnosed with OTCD.Interventions:The patients’ condition improved after following a low protein diet and receiving treatments for decreasing blood ammonia, energy supplement, correcting acid-base imbalance, and other symptomatic treatments.Outcomes:After prompt symptomatic treatment, the consciousness and cognition of the children improved. Besides, liver function also improved significantly.Conclusions:For patients with neurological symptoms and unexplained increase in transaminase and ammonia, OTCD should be considered as a possible diagnosis. Brain MRI can help the diagnosis of genetic metabolic encephalopathy and reflect the level of brain injury. Metabolic screening and genetic detection are helpful to make a confirmed diagnosis.

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Fatal coma in a young adult due to late-onset urea cycle deficiency presenting with a prolonged seizure: a case report

Cited by 18 publications

References 11 publications

Late Onset Ornithine Transcarbamylase Deficiency Triggered by an Acute Increase in Protein Intake: A Review of 10 Cases Reported in the Literature

Late Onset Ornithine Transcarbamylase Deficiency Triggered by an Acute Increase in Protein Intake: A Review of 10 Cases Reported in the Literature

Molecular Basis of Hyperammonemic Encephalopathy in Fibrolamellar Hepatocellular Carcinoma

Clinical and cranial MRI features of female patients with ornithine transcarbamylase deficiency

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