Score: 0.202 Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen in Two Individuals. JIMD Rep. 2018; 39:45-54. [connects.catalyst.harvard.edu]

Affected children present with delay or loss of motor developmental milestones (e.g., delayed walking, gait disturbance). [ncbi.nlm.nih.gov]

In the present review, the authors focus on neurological disorders with psychiatric signs associated with copper, iron, and manganese excess and the diagnosis and potential treatment of such disorders. [curefa.org]

Purpose of Review This article provides an overview of the pathogenesis, clinical presentation and treatment of inherited manganese transporter defects. [x-mol.com]

This observation was somewhat unexpected given the substantial ab initio zinc content present within the Xenopus zygote that does not seem to change through developmental stage 5024 and the large number of varied zinc uptake mechanisms in vertebrates. [tandfonline.com]

• Intravenous Administration

  While chelation therapy with intravenous administration of disodium calcium edetate early in the disease course shows promise, additional studies are warranted. [ncbi.nlm.nih.gov]

• Pneumonia

  Gastric feeding tube and/or tracheostomy may be required to prevent aspiration pneumonia. [ncbi.nlm.nih.gov]

• Aspiration

  Gastric feeding tube and/or tracheostomy may be required to prevent aspiration pneumonia. [ncbi.nlm.nih.gov]

• Hypomimia

  Early in the disease course, children show axial hypotonia followed by dystonia, spasticity, dysarthria, bulbar dysfunction, and signs of parkinsonism including bradykinesia, hypomimia, and tremor. [ncbi.nlm.nih.gov]

• Psychiatric Symptoms

  symptoms; history of Mn exposure from environmental sources, parenteral nutrition, or contaminated ephedrone preparations Acquired hepatocerebral degeneration 2 NA NA Liver disease is the predominant feature; it precedes development of neurologic symptoms [ncbi.nlm.nih.gov]

• Neurologic Manifestation

  After six months of treatment, neurologic manifestations improved and the child regained the ability to walk. [ncbi.nlm.nih.gov]

• Bradykinesia

  Early in the disease course, children show axial hypotonia followed by dystonia, spasticity, dysarthria, bulbar dysfunction, and signs of parkinsonism including bradykinesia, hypomimia, and tremor. [ncbi.nlm.nih.gov]

• Tremor

  Early in the disease course, children show axial hypotonia followed by dystonia, spasticity, dysarthria, bulbar dysfunction, and signs of parkinsonism including bradykinesia, hypomimia, and tremor. [ncbi.nlm.nih.gov]

• Gliosis

  The neuropathologic findings in one individual with SLC39A14 deficiency [Tuschl et al 2016] included: Extensive gliosis and neuronal loss in the globus pallidus and dentate nucleus; Preservation of neurons in the cerebral and cerebellar cortex as well [ncbi.nlm.nih.gov]

[…] of Manifestations Symptomatic treatment. [ncbi.nlm.nih.gov]

In the present review, the authors focus on neurological disorders with psychiatric signs associated with copper, iron, and manganese excess and the diagnosis and potential treatment of such disorders. [curefa.org]

Connection Strength 1.721 Novel founder intronic variant in SLC39A14 in two families causing Manganism and potential treatment strategies. Mol Genet Metab. 2018 06; 124(2):161-167. [connects.catalyst.harvard.edu]

Purpose of Review This article provides an overview of the pathogenesis, clinical presentation and treatment of inherited manganese transporter defects. [x-mol.com]

Levels of Fpn are reduced in WIF-B cells by hepcidin, while treatment with hepcidin did not affect Mn efflux in WIF-B cells, and the secretory inhibitor, brefeldin A, blocked the release of Mn from WIF-B cells. [medicineinnovates.com]

Journal of Crohn's and Colitis 4 (5), 561-566, 2010282010Widespread but not localized neoplasia in inflammatory bowel disease worsens the prognosis of colorectal cancer S Brackmann, G Aamodt, SN Andersen, B Roald, F Langmark, ... [scholar.google.com]

Standardization of quantitative epidemiological methods in the field. Bol Oficina Sanit Panam. 1974;76(5):375-84 [cited August 16, 2016]. [medigraphic.com]

Given the increasing appreciation for rare monogenic contributions to ASD [11]-[13], TS provides a powerful avenue for understanding both basic neurobiological processes and ASD pathophysiology. [genomemedicine.biomedcentral.com]

Prevention of Primary Manifestations Chelation therapy with disodium calcium edetate may prevent primary disease manifestations in affected sibs who are asymptomatic (see Treatment of Manifestations). [ncbi.nlm.nih.gov]

We suggest that prevention of zinc deficiency, such as through dietary zinc supplementation, will reduce the risk of neural tube defects and other congenital malformations in individuals with select ZIP12 polymorphisms. [tandfonline.com]

List of references Publications that cite this publication Treatment and prevention of pathological mitochondrial dysfunction in retinal degeneration and in photoreceptor injury Walter H. Moos, Douglas V. Faller, Ioannis P. Glavas, David N. [ouci.dntb.gov.ua]