Chronic pancreatitis in branched-chain organic acidurias—a case of methylmalonic aciduria and an overview of the literature

Marquard, Jan; Scheich, Tarik el; Klee, Dirk; Schmitt, Marcus; Meißner, Thomas; Mayatepek, Ertan; Oh, Jun

doi:10.1007/s00431-010-1313-5

Cited by 25 publications

(25 citation statements)

References 19 publications

(13 reference statements)

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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 Presentationsupporting

confidence: 54%

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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Section: Clinical Presentationsupporting

confidence: 54%

Aspects of Newborn Screening in Isovaleric Acidemia

Schlune

Riederer

Mayatepek

et al. 2018

IJNS

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“…It is understood that other, but extremely rare, metabolic risk factors of pancreatitis include methylmalonic acidemia (7), proprionic acidemia (8), and some urea cycle disorders, such as ornithine carbamoyltransferase deficiency (9) Metabolic syndromes typically present with multisystem involvement and associated symptoms that lead to their consideration. For example, methylmalonic acidemia presents with failure to thrive, vomiting, anemia, thrombocytopenia, hypotonia, renal disease, and developmental delay (10).…”

Section: Methodsmentioning

confidence: 99%

Toxic‐metabolic Risk Factors in Pediatric Pancreatitis

Husain

Morinville

Pohl

et al. 2016

J. pediatr. gastroenterol. nutr.

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Objectives Pancreatitis in children can result from metabolic and toxic risk factors, but the evidence linking these factors is sparse. We review the evidence for association or causality of these risk factors in pancreatitis, discuss management strategies and their rationale. Methods We conducted a review of the pediatric pancreatitis literature with respect to the following risk factors: (a) hyperlipidemia, (b) hypercalcemia, (c) chronic renal failure, (d) smoking exposure, (e) alcohol, and (f) medications. Areas of additional research were identified. Results Hypertriglyceridemia of 1000 mg/dl or greater poses an absolute risk for pancreatitis; persistent elevations of calcium are predisposing. Further research is necessary to determine whether end stage renal disease leads to increased pancreatitis in children similar to adults. It is unknown whether cigarette smoking exposure, which clearly increases risk in adults, also increases risk in children. The role of alcohol in pediatric pancreatitis, whether direct or modifying, needs to be elucidated. The evidence supporting most cases of medication-induced pancreatitis is poor. Drug structure, improper handling of drug by host, and by-stander status may be implicated. Other pancreatitis risk factors must be sought in all cases. Conclusions The quality of evidence supporting causative role of various toxic and metabolic factors in pediatric pancreatitis is variable. Careful phenotyping is essential, including search for other etiologic risk factors. Directed therapy includes correction/ removal of any agent identified, and general supportive measures. Further research is necessary to improve our understanding of these pancreatitis risk factors in children.

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“…Organic Aciduria: Propionic (< 1-9/100000, ORPHA35), methylmalonic (< 1/1000000, ORPHA26) and isovaleric acidemias (1-9/100000, ORPHA33) are sometimes discovered during infancy through the presence of hyperglycemic ketoacidosis, which may suggest diabetes, particularly during pancreatitis, one of the complications of the disease [39,40]. Diabetes has never been reported to be a presenting manifestation of organic aciduria in adulthood, but should be kept in mind since mitochondrial dysfunction has been reported to be associated with it [41].…”

Section: Diabetesmentioning

confidence: 99%

Endocrine manifestations related to inherited metabolic diseases in adults

Vantyghem

Dobbelaere

Mention

et al. 2012

Orphanet J Rare Dis

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Most inborn errors of metabolism (IEM) are recessive, genetically transmitted diseases and are classified into 3 main groups according to their mechanisms: cellular intoxication, energy deficiency, and defects of complex molecules. They can be associated with endocrine manifestations, which may be complications from a previously diagnosed IEM of childhood onset. More rarely, endocrinopathies can signal an IEM in adulthood, which should be suspected when an endocrine disorder is associated with multisystemic involvement (neurological, muscular, hepatic features, etc.). IEM can affect all glands, but diabetes mellitus, thyroid dysfunction and hypogonadism are the most frequent disorders. A single IEM can present with multiple endocrine dysfunctions, especially those involving energy deficiency (respiratory chain defects), and metal (hemochromatosis) and storage disorders (cystinosis). Non-autoimmune diabetes mellitus, thyroid dysfunction and/or goiter and sometimes hypoparathyroidism should steer the diagnosis towards a respiratory chain defect. Hypogonadotropic hypogonadism is frequent in haemochromatosis (often associated with diabetes), whereas primary hypogonadism is reported in Alström disease and cystinosis (both associated with diabetes, the latter also with thyroid dysfunction) and galactosemia. Hypogonadism is also frequent in X-linked adrenoleukodystrophy (with adrenal failure), congenital disorders of glycosylation, and Fabry and glycogen storage diseases (along with thyroid dysfunction in the first 3 and diabetes in the last). This is a new and growing field and is not yet very well recognized in adulthood despite its consequences on growth, bone metabolism and fertility. For this reason, physicians managing adult patients should be aware of these diagnoses.

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Chronic pancreatitis in branched-chain organic acidurias—a case of methylmalonic aciduria and an overview of the literature

Cited by 25 publications

References 19 publications

Aspects of Newborn Screening in Isovaleric Acidemia

Aspects of Newborn Screening in Isovaleric Acidemia

Toxic‐metabolic Risk Factors in Pediatric Pancreatitis

Endocrine manifestations related to inherited metabolic diseases in adults

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