Acute Pancreatitis with Rapid Clinical Improvement in a Child with Isovaleric Acidemia

Mantadakis, Elpis; Chrysafis, Ioannis; Tsouvala, Emmanouela; Evangeliou, Athanasios; Chatzimichael, Athanassios

doi:10.1155/2013/721871

Cited by 6 publications

(6 citation statements)

References 14 publications

(11 reference statements)

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“…The acute form appears with findings of lethargy, vomiting, dehydration, convulsion and coma in the first week of life. The chronic intermittent form appears at subsequent periods of childhood following conditions of stress, such as viral or bacterial infections, prolonged fasting or high protein intake [6]. In our patient, clinical presentation and advanced age were compatible with the chronic intermittent form.…”

Section: Discussionsupporting

confidence: 50%

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A Rare Cause of Recurrent Acute Pancreatitis in a Child: Isovaleric Acidemia with Novel Mutation

Sağ

Çebi

Kaya

et al. 2017

Pediatr Gastroenterol Hepatol Nutr

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Recurrent acute pancreatic attacks is a rare clinical condition (2-5% of all acute pancreatis) in children and is mainly idiopathic in most cases. Sometimes it may be associated with congenital anomalies, metabolic diseases or hereditary conditions. Isovaleric acidemia (IVA) is a rare autosomal recessive amino acid metabolism disorder associated with isovaleryl coenzyme A dehydrogenase deficiency presenting the clinical findings such metabolic acidosis with increased anion gap, hyperammonemia, ketonemia, hypoglycemia, “the odor of sweaty feet,” abdominal pain, vomiting, feeding intolerance, shock and coma. Recurrent acute pancreatitis associated with IVA have been rarely reported. Herein; we report a child who admitted with recurrent acute pancreatic attacks and had the final diagnosis of IVA. Mutation analysis revealed a novel homozygous mutation of (p.E117K [c.349G>A]) in the IVA gene. Organic acidemias must kept in mind in the differential diagnosis of recurrent acute pancreatic attacks in children.

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Section: Discussionsupporting

confidence: 50%

“…Chronic intermittent or asymptomatic forms have been reported in addition to the acute form. Prolonged fasting, infections and a protein-rich diet may trigger acute attacks in chronic form [6]. …”

Section: Introductionmentioning

confidence: 99%

A Rare Cause of Recurrent Acute Pancreatitis in a Child: Isovaleric Acidemia with Novel Mutation

Sağ

Çebi

Kaya

et al. 2017

Pediatr Gastroenterol Hepatol Nutr

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“…Neurological manifestations of IVA relate to EEG abnormalities or seizures and motor dysfunction [71,72]. Similar to findings in other organic acidurias [73], there have been single reports of patients with pancreatitis [39,[74][75][76]. Liver fibrosis [28] and, most recently, optic nerve atrophy [71] have also been associated with IVA.…”

Section: Clinical Presentationmentioning

confidence: 61%

Aspects of Newborn Screening in Isovaleric Acidemia

Schlune

Riederer

Mayatepek

et al. 2018

IJNS

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Isovaleric acidemia (IVA), an inborn error of leucine catabolism, is caused by mutations in the isovaleryl-CoA dehydrogenase (IVD) gene, resulting in the accumulation of derivatives of isovaleryl-CoA including isovaleryl (C5)-carnitine, the marker metabolite used for newborn screening (NBS). The inclusion of IVA in NBS programs in many countries has broadened knowledge of the variability of the condition, whereas prior to NBS, two distinct clinical phenotypes were known, an "acute neonatal" and a "chronic intermittent" form. An additional biochemically mild and potentially asymptomatic form of IVA and its association with a common missense mutation, c.932C>T (p.A282V), was discovered in subjects identified through NBS. Deficiency of short/branched chain specific acyl-CoA dehydrogenase (2-methylbutyryl-CoA dehydrogenase), a defect of isoleucine degradation whose clinical significance remains unclear, also results in elevated C5-carnitine, and may therefore be detected by NBS for IVA. Treatment strategies for the long-term management of symptomatic IVA comprise the prevention of catabolism, dietary restriction of natural protein or leucine intake, and supplementation with L-carnitine and/or L-glycine. Recommendations on how to counsel and manage individuals with the mild phenotype detected by NBS are required.

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“…The mechanism underlying the development of pancreatitis has been elucidated, although the most common biochemical changes in the disease include hypoglycemia, lactic acidosis, and high levels of uric acid and triglycerides-any of which may contribute to the onset of pancreatitis. Previous studies have reported the incidence of pancreatitis in organic acidurias; the first ever report discussed pancreatitis in 9 out of 108 patients with branched-chain organic aciduria (BCOA) [2,7], while pancreatitis was observed in 10 patients with isovaleric acidemia [19,20], 2 with propionic academia [4,6], 1 with MMA [6], 2 with maple syrup urine disease (MSUD) [21], 1 with glutaric academia [5], and 2 with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency [22,23]. Case 5, who had a fatty acid oxidation metabolic disorder, showed elevated transaminase levels and hepatomegaly after prolonged fasting or inadequate diet, which led to pancreatitis.…”

Section: Discussionmentioning

confidence: 99%

“…Lack of energy supply could be [29][30][31]. Hyperlipidemia interferes with amylase measurements, leading to false-negative results [20,21,26,27,32,33]. This may explain the normal or mildly elevated amylase levels in patients with severe necrotizing pancreatitis.…”

Section: Discussionmentioning

confidence: 99%

Pancreatic involvement in patients with inborn errors of metabolism

Hwang

Lim

Kim

et al. 2021

Orphanet J Rare Dis

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Background Repeated inflammation of the pancreas can cause pancreatitis or diabetes. It is well recognized that the organic acidemias may be complicated by pancreatitis but less recognized are other metabolic disorders in which pancreatitis can occur. This study shows that long-term follow-up of patients with various metabolic disorders in Korea revealed several with episodes of isolated pancreatitis or diabetes concomitantly with pancreatitis. Results and discussion In this study, two patients with methylmalonic aciduria (MMA), two with propionic acidemia (PPA), one with fatty acid oxidation disorder (FAOD), and one with hyperornithinemia, gyrate atrophy, and juvenile onset diabetes mellitus (DM) were clinically followed for up to 10 – 21 years. Two Korean siblings with MMA showed recurrent pancreatitis from the age of 15 and 19, respectively. The frequency of admission due to pancreatitis was up to 11 times. One patient with MMA developed diabetes mellitus at the age of 20. The other patient with MMA developed recurrent pancreatitis at 4 years and diabetes at 8 years of age. One of the patients with PPA presented with diabetic ketoacidosis. The other PPA patient died of cardiac arrest at age 10. The patient with FAOD presented with pancreatitis at 10 years and died at the age of 15 years due to cardiac arrest. A 35-year-old woman with hyperornithinemia/gyrate atrophy was diagnosed with juvenile onset diabetes at the age of 7 years. No pancreatitis occurred during the follow-up period. Conclusions We conclude that various metabolic disorders can trigger acute or chronic pancreatitis. Proper and prompt multidisciplinary management of metabolic derangement is crucial for preventing pancreatic damage. Further clinical and investigational studies are required to elucidate the pathogenesis of pancreatitis and diabetes mellitus in patients with inborn errors in metabolism.

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Acute Pancreatitis with Rapid Clinical Improvement in a Child with Isovaleric Acidemia

Cited by 6 publications

References 14 publications

A Rare Cause of Recurrent Acute Pancreatitis in a Child: Isovaleric Acidemia with Novel Mutation

A Rare Cause of Recurrent Acute Pancreatitis in a Child: Isovaleric Acidemia with Novel Mutation

Aspects of Newborn Screening in Isovaleric Acidemia

Pancreatic involvement in patients with inborn errors of metabolism

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