We present evidence suggesting that thiamine supplementation may rescue TPK enzyme activity. [escholar.manchester.ac.uk]

Unlike the previously described phenotype, Patient 2 presented with a Leigh syndrome like non-episodic early-onset global developmental delay, thus extending the phenotypic spectrum of the disorder. [push-zb.helmholtz-muenchen.de]

Lactic acidosis and 2-ketoglutaric aciduria appear to be markers of this disorder, although they do not seem to have been present in all cases. [ommbidblog.com]

Acronym THMD5 Synonyms Episodic encephalopathy due to thiamine pyrophosphokinase deficiency Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]

Help/About FAQ Download Networks Download Disease-Gene Predictions Custom Classifier My Gene Sets In, analyze TPK1 thiamin pyrophosphokinase 1 TPK1 in Antigen processing and presentation TPK1 in B cell receptor signaling pathway TPK1 in Chemokine signaling [immunet.princeton.edu]

• Epilepsy

  Epilepsy that also includes the following genes: UBE3A YARS2 PC UQCRQ UQCRB SDHAF2 AMACR OPA1 TRMU WFS1 More info about this panel AllNeuro panel Panel By Centogene AG - the Rare Disease Company in Germany. [mendelian.co]

  Ataxia with ocular apraxia (AOA) Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) Idiopathic generalied epilepsies (IGEs) Autosomal dominant temporal lobe epilepsy (ADTLE) Progressive myoclonic epilepsy (PME) Primary dystonia Core neuroacanthocytosis [csirnotes.com]

  Special Issue “Neurostimulation for Epilepsy”. [medworm.com]

  Recurrent seizures are usually referred to as EPILEPSY or "seizure disorder." Left ventricular hypertrophy MedGen UID: 57442 • Concept ID: C0149721 • Disease or Syndrome Enlargement of the LEFT VENTRICLE of the heart. [ncbi.nlm.nih.gov]

  E-2018 115 Viral Infections of the Nervous System E-2041 116 Fungal Rickettsial and Parasitic Diseases of the Nervous System E-2075 117 Neurologic Complications of Immunization E-2132 118 Paraneoplastic Neurologic Syndromes E-2142 119 ImmuneMediated Epilepsy [books.google.com]

• Constipation

  […] of poor growth, loss of muscle coordination, muscle weakness, neurological deficit, seizures, autism, autistic spectrum, autistic- like features, learning disabilities, heart disease, liver disease, kidney disease, gastrointestinal disorders, severe constipation [brevets-patents.ic.gc.ca]

• Hypertension

  […] diseases Glucocorticoid-remediable aldosteronism (GRA) Apparent mineralocorticoid excess syndrome Liddle syndrome Aldosterone synthase Deficiency Hypertension exacerbated in pregnancy ] Primary pulmonary hypertension (PPH) Pulmonary arterial hypertension [csirnotes.com]

  […] combined oxidative phosphorylation deficiency-19 (COXPD19), combined oxidative phosphorylation deficiency-20 (COXPD20), combined oxidative phosphorylation deficiency-21 (COXPD21), fumarase deficiency, HMG-CoA synthase-2 deficiency, hyperuricemia, pulmonary hypertension [brevets-patents.ic.gc.ca]

• Hepatomegaly

  Learn more about how to achieve it with Mendelian Learn more Other signs and symptoms that you may find interesting Ventricular septal defect and Type II diabetes mellitus, related diseases and genetic alterations Hepatomegaly and Short neck, related [mendelian.co]

• Osteoporosis

  […] complement pathway component defects Mannose-binding lectin pathway component defects Complement regulatory protein defects Other well-defined immunodeficiency syndromes Autoimmune lymphoproliferative syndromes Familial hemophagocyic lymphohistiocytosis Osteoporosis [csirnotes.com]

  Without the vitamin you could develop ittle bones increasing the chance of getting osteoporosis when you’re older. [cartoplast-trade.eu]

• Phenylketonuria

  Dystroglycanopathy Sialuria Lowe syndrome Tn syndrome Temtamy preaxial brachydactyly syndrome (TPBS) Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects (JDSSDHD) Congenital disorders of amino acid metabolism Phenylketonuria [csirnotes.com]

• Confusion

  WE presents with the classic triad of ocular findings, cerebellar dysfunction, and confusion. [1] Korsakoff amnestic syndrome is a late neuropsychiatric manifestation of WE with memory loss and confabulation; sometimes, the condition is referred to as [emedicine.medscape.com]

  […] spectrum, autistic- like features, learning disabilities, heart disease, liver disease, kidney disease, gastrointestinal disorders, severe constipation, diabetes, increased risk of infection, thyroid dysfunction, adrenal dysfunction, autonomic dysfunction, confusion [brevets-patents.ic.gc.ca]

  Commonly - More than 50% cases Dysphonia Not very common - Between 30% and 50% cases Left ventricular hypertrophy Commonly - More than 50% cases Truncal ataxia Not very common - Between 30% and 50% cases Intention tremor Commonly - More than 50% cases Confusion [mendelian.co]

• Loss of Speech

  Loss of speech MedGen UID: 107445 • Concept ID: C0542223 • Finding Generalized hypotonia MedGen UID: 346841 • Concept ID: C1858120 • Finding Generalized muscular hypotonia (abnormally low muscle tone). [ncbi.nlm.nih.gov]

  These episodes result in progressive neurologic dysfunction manifest as gait disturbances, ataxia, dystonia, and spasticity, which in some cases may result in loss of ability to walk. [mendelian.co]

In some cases, treatment with oral vitamin B1 supplements has helped to relieve symptoms. [diseaseinfosearch.org]

To ensure optimal treatment outcome, exact electrode placement is r... [medworm.com]

Early thiamine supplementation prevented encephalopathic episodes and improved developmental progression of Patient 1, emphasizing the importance of early diagnosis and treatment of TPK deficiency. [escholar.manchester.ac.uk]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice . [uniprot.org]

The mechanism of the disease, its phenotype and treatment are not entirely clear.We present two patients with novel homozygous TPK1 mutations (Patient 1 with p.Ser160Leu and Patient 2 with p.Asp222His). [push-zb.helmholtz-muenchen.de]

Prognosis WE is a significantly disabling and potentially lethal condition that can be prevented or reversed if identified and treated early in the course of illness. [emedicine.medscape.com]

Etiology Causes Thiamine deficiency is characteristically associated with chronic alcoholism, because it affects thiamine uptake and utilization. [2] In long-term alcoholics, malnutrition can reduce intestinal thiamine absorption by 70%, decreasing serum [emedicine.medscape.com]

Nutritionally deficient patients receiving glucose should also receive thiamine, but urgent administration of glucose should not be delayed pending thiamine administration. [5] Epidemiology Occurrence in the United States Autopsy studies indicate that [emedicine.medscape.com]

[…] spinal fluid protein levels and diffuse slowing of postsynaptic potentials on electroencephalography. [7] Studies suggest that up to 80% of patients with WE may not be diagnosed, which make estimates of morbidity and mortality rates unreliable. [10] Pathophysiology [emedicine.medscape.com]

FOG has a complex and heterogeneous pathophysiology whereby the impaired habitual control of gait in PD become s vulnerable to interference from consecutive processing across motor, cognitive and limbic cortico-striatal circuits in the absence of striatal [medworm.com]

Early thiamine supplementation prevented encephalopathic episodes and improved developmental progression of Patient 1, emphasizing the importance of early diagnosis and treatment of TPK deficiency. [escholar.manchester.ac.uk]

It has been reported that early thiamine supplementation prevented encephalopathic episodes and improved developmental progression. [genome.jp]

Prognosis WE is a significantly disabling and potentially lethal condition that can be prevented or reversed if identified and treated early in the course of illness. [emedicine.medscape.com]

These tests will help to diagnose or confirm the diagnosis of TPK deficiency in a clinical setting.Early thiamine supplementation prevented encephalopathic episodes and improved developmental progression of Patient 1, emphasizing the importance of early [push-zb.helmholtz-muenchen.de]