Presentation of the Data of the Italian Registry for Oculocutaneous Tyrosinaemia

Fois, Alberto; Borgogni, P.; Cioni, Maddalena; Molinelli, M.; Frezzotti, R.; Bardelli, A.; Lasorella, G.; Barberi, Laura; Durand, P.; Rocco, Maja Di; Romano, C.; Parini, Rossella; Corbetta, Carlo; Giovannini, Marcello; Riva, Enrica; Balato, Nicola; Sartorio, R.; Mollica, F; Zammarchi, Enrico; Battini, M. L.

doi:10.1007/978-94-009-4131-1_42

Cited by 4 publications

(4 citation statements)

References 3 publications

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“…Phe and Tyr metabolism have already been reported to be associated with neuropsychiatric symptoms. Meanwhile, Tyrosinemia types I (OMIM #276700), II (OMIM #276600), and III (OMIM #276710) are all genetic conditions known to impact on the Tyr metabolism pathways, which can lead to neurodevelopmental or behavioral abnormalities(Bendadi et al, 2014;Ellaway et al, 2001;Fois et al, 1986;Mayorandan et al, 2014;Pohorecka et al, 2012).Another aminoacidopathy that needs to be mentioned is Maple syrup urine disease (MSUD -OMIM #248600). Untreated PKU is characterized by developmental delay or regression, and/or different psychiatric features such as psychosis, depression, or anxiety(Clacy, Sharman, & McGill, 2014;Seim & Reichelt, 1995;Walterfang, Bonnot, Mocellin, & Velakoulis, 2013).…”

mentioning

confidence: 99%

Biomarkers for major depressive and bipolar disorders using metabolomics: A systematic review

MacDonald¹,

Krishnan²,

Cervenka³

et al. 2018

American J of Med Genetics Pt B

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Major depressive disorder (MDD) and bipolar disorder (BD) lack robust biomarkers useful for screening purposes in a clinical setting. A systematic review of the literature was conducted on metabolomic studies of patients with MDD or BD through the use of analytical platforms such as in vivo brain imaging, mass spectrometry, and nuclear magnetic resonance. Our search identified a total of 7,590 articles, of which 266 articles remained for full-text revision. Overall, 249 metabolites were found to be dysregulated with 122 of these metabolites being reported in two or more of the studies included. A list of biomarkers for MDD and BD established from metabolites found to be abnormal, along with the number of studies supporting each metabolite and a comparison of which biological fluids they were reported in, is provided. Metabolic pathways that may be important in the pathophysiology of MDD and BD were identified and predominantly center on glutamatergic metabolism, energy metabolism, and neurotransmission.Using online drug registries, we also illustrate how metabolomics can facilitate the discovery of novel candidate drug targets. K E Y W O R D Sbiochemical, biomarker panel, mood disorders, omics

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mentioning

confidence: 99%

Biomarkers for major depressive and bipolar disorders using metabolomics: A systematic review

MacDonald¹,

Krishnan²,

Cervenka³

et al. 2018

American J of Med Genetics Pt B

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“…Differential diagnosis can be made with tyrosinemia type I and type II with the aid of succinylacetone (diagnostic for type I) and clinical features. Neurological findings in type II are quite variable and may be completely normal or microcephaly, seizures, self-mutilation, and behavioral disorders may be seen, while oculocutaneous features are more characteristic [Fois et al, 1986]. Type III also presents with neurological findings, but oculocutaneous findings are not expected.…”

Section: Discussionmentioning

confidence: 99%

Novel Cranial Imaging Findings and a Splice-Site Variant in a Patient with Tyrosinemia Type III, and a Summary of Published Cases

et al. 2022

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Tyrosinemia type III is an extremely rare autosomal recessive disease, with only 19 patients yet reported. It is caused by a deficiency of the 4-hydroxyphenylpyruvate dioxygenase enzyme, resulting from biallelic mutations in the HPD gene. Although the clinical spectrum of the disease is not fully known, most patients present with neurodevelopmental symptoms. We report on a 20-month-old patient who was investigated due to developmental delay and dysmorphic features. The girl had a novel splice-site mutation in the HPD gene and ventriculomegaly in cranial imaging, which was not previously associated with tyrosinemia type III. Our patient had mild subjective improvement in social skills and language development after dietary therapy was started and her tyrosine levels decreased. We also summarize clinical, biochemical, and genetic findings of previously published patients with biallelic HPD mutations.

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“…Although this is thought to be linked to elevated tyrosine in the blood, the detailed mechanism has not been clarified. Moreover, large amounts of 4‐OH‐phenylpyruvate, the product of tyrosine transamination, and its oxides are excreted in urine . This is due to the aspartate aminotransferase converting tyrosine to 4‐OH‐ohenylpyruvate when it is present at high concentration.…”

Section: Pathophysiology and Epidemiologymentioning

confidence: 99%

Diagnosis and treatment of hereditary tyrosinemia in Japan

Nakamura

Matsumoto

Mitsubuchi

et al. 2015

Pediatrics International

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Hereditary tyrosinemia is an autosomal recessive inherited disease that manifests as three types (types I-III). We conducted a nationwide survey of this disease in Japan, and here review the results in relation to prevalence, clinical characteristics, and treatment and diagnosis. A definitive diagnosis of tyrosinemia type I is difficult to obtain based only on blood tyrosine level. Detection of succinylacetone using dried blood spots or urinary organic acid analysis, however, is useful for diagnosis. In tyrosinemia type I, dietary therapy and nitisinone (Orfandin®) are effective. Prognosis is greatly affected by the complications of liver cancer and hypophosphatemic rickets; even patients that are treated early with nitisinone may develop liver cancer. Long-term survival can be expected in type I if nitisinone therapy is effective. Prognosis in types II and III is relatively good.

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Presentation of the Data of the Italian Registry for Oculocutaneous Tyrosinaemia

Cited by 4 publications

References 3 publications

Biomarkers for major depressive and bipolar disorders using metabolomics: A systematic review

Biomarkers for major depressive and bipolar disorders using metabolomics: A systematic review

Novel Cranial Imaging Findings and a Splice-Site Variant in a Patient with Tyrosinemia Type III, and a Summary of Published Cases

Diagnosis and treatment of hereditary tyrosinemia in Japan

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