Inborn Errors of Metabolism and the Gastrointestinal Tract

Guerrero, Rubén Bonilla; Kloke, Karen M.; Salazar, Denise

doi:10.1016/j.gtc.2019.02.001

Cited by 7 publications

(11 citation statements)

References 50 publications

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“…Acute hepatic porphyrias (AHPs) are a rare and potentially life‐threatening subgroup of hereditary porphyrias characterised by neurovisceral attacks with or without cutaneous manifestations 45,46 . AHPs are transmitted in an autosomal dominant manner, 48 and the most frequent porphyria linked to neurovisceral symptoms is acute intermittent porphyria (AIP). The prevalence of AIP in Western populations is approximately one in 1700 individuals, but the penetrance of the gene is low 46 .…”

Section: Pap Of Genetic Originmentioning

confidence: 99%

“…AHPs arise from a deficiency in one of the enzymes in the haeme biosynthesis pathway, resulting in hepatic accumulation and increased excretion of neurotoxic porphyrins and porphyrin precursors: delta‐aminolevulinic acid (ALA) and porphobilinogen (PBG) 45,48 …”

Section: Pap Of Genetic Originmentioning

confidence: 99%

“…Diagnosis of AHP is based on elevated concentrations of ALA and PBG in urine and plasma 45,48 . These tests take days to complete and contribute to diagnostic delay, misdirected medical care and poor outcomes.…”

Section: Pap Of Genetic Originmentioning

confidence: 99%

“…45 Neurovisceral attacks typically present as severe, diffuse abdominal pain (up to 95% of cases) that increases over several days or recurs over several weeks and is usually accompanied by nausea, vomiting, abdominal distention and guarding, diarrhoea or constipation. 45,47,48 Hyponatraemia, hypochloraemia and hypomagnesaemia may develop. Neurological symptoms can range from subtle signs of fatigue to altered mental status and, in severe cases, seizures and stupor.…”

Section: Acute Hepatic Porphyriasmentioning

confidence: 99%

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Review article: diagnostic and therapeutic approach to persistent abdominal pain beyond irritable bowel syndrome

Coffin

Duboc

2022

Aliment Pharmacol Ther

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Summary Background Persistent abdominal pain (PAP) poses substantial challenges to patients, physicians and healthcare systems. The possible aetiologies of PAP vary widely across organ systems, which leads to extensive and repetitive diagnostic testing that often fails to provide satisfactory answers. As a result, widely recognised functional disorders of the gut–brain interaction, such as irritable bowel syndrome and functional dyspepsia, are often diagnosed in patients with PAP. However, there are a number of less well‐known differential diagnoses that deserve consideration. Aim To provide a comprehensive update on causes of PAP that are relatively rare in occurrence. Methods A literature review on the diagnosis and management of some less well‐known causes of PAP. Results Specific algorithms for the diagnostic work‐up of PAP do not exist. Instead, appropriate investigations tailored to patient medical history and physical examination findings should be made on a case‐by‐case basis. After a definitive diagnosis has been reached, some causes of PAP can be effectively treated using established approaches. Other causes are more complex and may benefit from a multidisciplinary approach involving gastroenterologists, pain specialists, psychologists and physiotherapists. This list is inclusive but not exhaustive of all the rare or less well‐known diseases potentially associated with PAP. Conclusions Persistent abdominal pain (PAP) is a challenging condition to diagnose and treat. Many patients undergo repeated diagnostic testing and treatment, including surgery, without achieving symptom relief. Increasing physician awareness of the various causes of PAP, especially of rare diseases that are less well known, may improve patient outcomes.

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Section: Pap Of Genetic Originmentioning

confidence: 99%

Section: Pap Of Genetic Originmentioning

confidence: 99%

Section: Pap Of Genetic Originmentioning

confidence: 99%

Section: Acute Hepatic Porphyriasmentioning

confidence: 99%

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Review article: diagnostic and therapeutic approach to persistent abdominal pain beyond irritable bowel syndrome

Coffin

Duboc

2022

Aliment Pharmacol Ther

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“…Because our patient had prominent gastrointestinal complains of vomiting and abdominal pain, while the first video capsule endoscopy showed diffuse whitish changes mimicking ulcerations, she was misdiagnosed as Crohn's disease. However, inborn errors of metabolism should also be included in the differential diagnosis in patients with predominant gastrointestinal complaints, including relatively nonspecific symptoms of recurrent abdominal pain and vomiting (15).…”

Section: Madd (Omim 231680mentioning

confidence: 99%

Recurrent abdominal pain, vomiting, velvet-like changes in the small intestine in a patient with multiple acyl-CoA dehydrogenase deficiency: a case report

Shi¹,

Liu²,

Meng³

et al. 2021

Transl Pediatr

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Multiple acyl-CoA dehydrogenase deficiency (MADD) is an inborn error of metabolism in fatty acid oxidation. We described an unusual case of recurrent vomiting and abdominal pain in a child with MADD, presenting with velvet-like changes in the small intestine. Because of prominent gastrointestinal manifestations and small intestine ulcers, the patient was first diagnosed as Crohn's disease. The patient was admitted to our institution because of recurrent symptoms despite treatment. Upper and lower endoscopy, computed tomography and trios exome sequencing were performed. This patient underwent a repeated video endoscopy, which showed velvet-like changes in the small intestine rather than ulcers. Liver steatosis was identified by computed tomography. Serum tandem mass spectrometry showed elevated C8 and C10.Trios exome sequencing revealed compound heterozygous variants of c.250G>A, 524G>T in ETFDH. The diagnosis of MADD was made. Patient responded to oral riboflavin treatment. With this case, we aimed to highlight the importance of tandem mass spectrometry and genetic sequencing, especially when the endoscopic findings are not pathognomonic in pediatric cases with recurrent gastrointestinal complaints.We confirmed the diagnosis with next generation sequencing, and described unusual findings of velvet-like changes mimicking ulcers in the small intestine in this patient with MADD.

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Gastrointestinal disorders and nutritional assessment

Hashim

2024

Tutorials in Clinical Chemistry

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Inborn Errors of Metabolism and the Gastrointestinal Tract

Cited by 7 publications

References 50 publications

Review article: diagnostic and therapeutic approach to persistent abdominal pain beyond irritable bowel syndrome

Review article: diagnostic and therapeutic approach to persistent abdominal pain beyond irritable bowel syndrome

Recurrent abdominal pain, vomiting, velvet-like changes in the small intestine in a patient with multiple acyl-CoA dehydrogenase deficiency: a case report

Gastrointestinal disorders and nutritional assessment

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