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]

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

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]

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]

Patients: We present a sibling pair with Leighs disease, progressive hypotonia, regression, and chronic encephalopathy. Whole exome sequencing in the younger sibling demonstrated homozygous TPK1 mutations. [ashg.org]

• Hemophilia A

  Klippel-Trenaunay-Weber syndrome Sturge-Weber syndrome Pulmonary veno-occlusive disease and pulmonary capillary hemangiomatosis Hematologic diseases Thalassemia ATR-X syndrome Sickle cell anemia Hereditary spherocytosis Hereditary elliptocytosis Hereditary stomatocytosis Hemophilia [csirnotes.com]

• Cerebral Palsy

  94 Paroxysmal Dyskinesias E-1637 95 Movement Disorders of Infancy E-1646 96 DrugInduced Movement Disorders in Children E-1651 97 Cerebral Palsy E-1660 98 Tics and Tourette Syndrome E-1673 99 Genetic and Metabolic Disorders of the White Matter E-1690 100 [books.google.com]

  palsy Epithelial basement membrane corneal dystrophy (EBMD) Peters anomaly Pigmented paravenous chorioretinal atrophy (PPCA) Pituitary adenomas Choroideremia (CHM) Progressive external ophthalmoplegia (PEO) Pyridox(am)ine-5′-phosphate oxidase (PNPO) [csirnotes.com]

• Thrombosis

  Pressure E-1868 106 Spinal Cord Injury E-1882 107 Determination of Brain Death in Infants and Children E-1910 108 Development and Function of the Cerebrovascular System E-1931 109 Arterial Ischemic Stroke in Infants and Children E-1941 110 Sinovenous Thrombosis [books.google.com]

  Eosinophilic granulomatosis with polyangiitis Buerger’s disease Arteriosclerosis obliterans Chronic arterial occlusive disease Patent ductus arteriosus Raynaud syndrome Microscopic polyangiitis Extrahepatic portal vein obstruction (EHPVO) Deep vein thrombosis [csirnotes.com]

• 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]

  […] of speech Very Common - Between 80% and 100% cases Other less frequent symptoms Patients with TPK1 gene alterations may also develop some of the following symptoms and phenotypes: Commonly - More than 50% cases Progressive spasticity Not very common [mendelian.co]

• Febrile Seizures

  He is the author of over 70 peer-reviewed papers, 20 chapters and author/editor of 6 books with a special research interest in febrile seizures, psycho-social stress in pregnancy and its relationship to adverse outcome, the immunological basis of childhood [books.google.com]

  seizures Seizures-sensorineural deafness-ataxia-mental retardation-electrolyte imbalance (SESAME) Benign familial neonatal and infantile epilepsies Ataxia with ocular apraxia (AOA) Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) Idiopathic [csirnotes.com]

• Myoclonus

  Parasitic Diseases of the Nervous System E-2075 117 Neurologic Complications of Immunization E-2132 118 Paraneoplastic Neurologic Syndromes E-2142 119 ImmuneMediated Epilepsy Movement Disorders and Hashimotos Encephalopathy in Children E-2150 120 Opsoclonus Myoclonus [books.google.com]

  Mitochondrial DNA Depletion Syndrome-3, MELAS Syndrome, camptocormia, MNGIE, MNGIM Syndrome, Menkes Disease, Occipital Horn Syndrome, X-linked distal spinal muscular atrophy-3 (SMAX3), methemoglobinemia, MERRF, progressive external ophthalmoplegia with myoclonus [brevets-patents.ic.gc.ca]

• Peripheral Neuropathy

  Neuropathies E-2400 142 Acquired Peripheral Neuropathies E-2419 143 Inflammatory Neuropathies E-2436 144 Congenital Myasthenic Syndromes E-2451 145 Acquired Disorders of the Neuromuscular Junction E-2462 146 Duchenne and Becker Muscular Dystrophies E [books.google.com]

  neuropathy (ACCPN) Band-like calcification with simplified gyration and polymicrogyria (BLC-PMG) Perry syndrome Familial amyloidosis Benign hereditary chorea Pontocerebellar hypoplasia Myopathy with lactic acidosis and sideroblastic anaemia (MLASA) Lethal [csirnotes.com]

• Myelopathy

  […] dependence Insomnia Neuropathic pain Major depressive disorder Bipolar disorder Schizophrenia Generalized anxiety disorder Panic disorder Social anxiety disorder Neurosis Eating Disorders Asperger syndrome Neoplastic meningitis Syringomyelia HTLV1-Associated Myelopathy [csirnotes.com]

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]

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]

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

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

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]

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]

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]

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]