We present the clinical course and EEG evolution of an extreme low birth weight preterm neonate with an uncommon type of glycine encephalopathy. [ncbi.nlm.nih.gov]

The pathology presents encephalopathy in the neonatal period (85% as the neonatal severe form and 15% as the neonatal mild form). Of those cases presenting in infancy, 50% have the infantile mild form and 50% have the infantile severe form. [genetaq.com]

The first patient was a 5-day-old girl, born to first cousin parents, who presented with a weak cry, progressive lethargy, poor feeding and hiccough for three days. [cags.org.ae]

Initially, these patients present with the same symptoms and laboratory results that are seen in the classical presentation. [en.wikipedia.org]

This text brings together leading authorities presenting state-of-the-art clinical reviews covering the science, recognition, and treatment of the inherited metabolic epilepsies and related disorders. [books.google.de]

• Developmental Delay

  Infantile form presents with history of hypotonia, developmental delay, and seizures. [pediatricneurosciences.com]

  The infantile form is characterized by hypotonia, developmental delay, and seizures. The atypical forms range from milder disease, with onset from late infancy to adulthood, to rapidly progressing and severe disease with late onset. [genetaq.com]

  These patients are also developmentally delayed, to varying degrees. [en.wikipedia.org]

  Children with this type of glycine encephalopathy develop normally until 6 months of age, but thereafter manifest developmental delay and may start having seizures. [ivami.com]

• Movement Disorder

  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]

  Affected children have lethargy, feeding difficulties, hypotonia, spastic movement disorders and respiratory problems that threaten life. [ivami.com]

  Damage caused by elevated levels of glycine in the brain and cerebrospinal fluid is responsible for the characteristic seizures, breathing difficulties, movement disorders, and intellectual disability. [en.wikipedia.org]

  He was observed to have repetitive rotational movements of the neck and brief myoclonic movements in which he would extend his neck and posture his limbs. [e-jmd.org]

  Anxiety disordersand depressive disorders preceding Parkinsons disease: a case-control study. Movement Disord 2000;15:669677.18. De Coo IFM, Renier WO, Ruitenbeek W, et al. [docslide.com.br]

• Respiratory Distress

  Convulsive seizures and respiratory distress developed at 3 days of age. Administration of ketamine improved his electroencephalographic findings and hyperirritability. His psychomotor development was, however, severely delayed. [genome.jp]

• Ulcer

  Tetsuya Hida, Mitsuyoshi Minami and Yoshiaki Kubo : Bilateral leg ulcers secondary to dystrophic calcinosis in a patient with rheumatoid arthritis., The Journal of Medical Investigation : JMI, Vol.64, No.4, 308-310, 2017. [pub2.db.tokushima-u.ac.jp]

• Ataxia

  acetazolamide responsive AD CACNA1A GGE, episodic ataxia, familial hemiplegic migraine AD CACNA1H variants contributory in up to 8% of patients del 15q13.3 1% del 16p13.11 1% del 15q11.2 1% Autosomal-dominant nocturnal frontal lobe epilepsy (ADNFLE) [rch.org.au]

  The ataxia also improved following treatment. The initial EEG was normal but subsequent EEGs, separated by a week each, were abnormal and revealed subtle atypical ‘delta-brush-like waves’. [casereports.bmj.com]

  They often have seizures, which can range in severity and responsiveness to treatment, and they are typically developmentally delayed. [6] Glycine encephalopathy can also present as a milder form with episodic seizures, ataxia, movement disorders, and [en.wikipedia.org]

  Atypical cases present late in childhood with spastic diplegia, ataxia, and optic atrophy. [5] Only 20% of the cases carry good prognosis although they suffer from minimal developmental delay. [6] The illness may be precipitated by fever or high protein [pediatricneurosciences.com]

  Functional defects dueto spacer-region mutations of human mitochondrial DNA poly-merase in a family with an ataxia-myopathy syndrome. HumMol Genet 2005;14:19071920.17. Shiba M, Bower JH, Maraganore DM, et al. [docslide.com.br]

• Nystagmus

  […] or trismus Diplopia, nystagmus, ptosis, trismus Dysphagia, dysarthria, aphonia Dysphagia and speech difficulties Sensory symptoms and painful spasms Urinary incontinence (uncommon) Urinary incontinence (common) Disseminated intravascular coagulation, [e-jmd.org]

• Dystonia

  […] epilepsy X PCDH19 Family history of epilepsy/MR limited to females X-L2F PNKP Congenital microcephaly, simplified gyri AR SCN2A Late episodic ataxia and myoclonus AD PLCB1 Allelic with MMPSI AR SCN8A AD SLC2A1 GLUT1-DS, FHx of paroxysmal exertional dystonia [rch.org.au]

Other NMS-mimicking conditions, including nonconvulsive status epilepticus, malignant catatonia, serotonin syndrome and intracranial infections, were also considered and excluded during the patient’s initial workup before the diagnosis of NMS was made [e-jmd.org]

Studies regarding the effectiveness of these treatments are ongoing. Mildly affected individuals may receive the greatest benefit from treatment, particularly if treatment is started early. [xpertdox.com]

Evaluation of relatives at risk: Testing of at-risk sibs to promote early diagnosis and treatment. GENETIC COUNSELING: Glycine encephalopathy is inherited in an autosomal recessive manner. [ncbi.nlm.nih.gov]

CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. [diseaseinfosearch.org]

The seizures also proved resistant to treatment despite polytherapy with AEDs, and he required immune-modulatory treatment, intravenous methylprednisolone and intravenous immunoglobulin, in addition to the AEDs to achieve seizure control. [casereports.bmj.com]

"The patient is able to develop basic motor tasks that were unthinkable of at the beginning of the treatment, 17 months ago. [news-medical.net]

The prognosis and chance of survivial for an individual affected with glycine encephalopathy depend on the form of the condition the individual has as well as complications that may arise. [xpertdox.com]

Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia. Ann Neurol. 2015 Oct;78(4):606-18. doi: 10.1002/ana.24485. Epub 2015 Aug 10. [rarediseases.org]

[ edit ] The prognosis is very poor. [en.wikipedia.org]

Causes Differentiating D-Glyceric acidemia from Other Diseases Epidemiology and Demographics Risk Factors Screening Natural History, Complications, and Prognosis Diagnosis Diagnostic Criteria History and Symptoms Physical Examination Laboratory Findings [wikidoc.org]

Atypical cases present late in childhood with spastic diplegia, ataxia, and optic atrophy. [5] Only 20% of the cases carry good prognosis although they suffer from minimal developmental delay. [6] The illness may be precipitated by fever or high protein [pediatricneurosciences.com]

Typical result of theMLPA analysis in the GE patients is shown in Fig. 3.Sequencing analysis of the anking sequences of severaldeletions suggested that Alu-mediated recombinationmay underlie in the etiology of the GLDC deletions.3.4. [documents.tips]

Relevant External Links for GLDC Genetic Association Database (GAD) GLDC Human Genome Epidemiology (HuGE) Navigator GLDC Atlas of Genetics and Cytogenetics in Oncology and Haematology: GLDC No data available for Genatlas for GLDC Gene The glycine cleavage [genecards.org]

Causes Differentiating D-Glyceric acidemia from Other Diseases Epidemiology and Demographics Risk Factors Screening Natural History, Complications, and Prognosis Diagnosis Diagnostic Criteria History and Symptoms Physical Examination Laboratory Findings [wikidoc.org]

To provide a basis for improving the understanding of the epidemiology, genotype/phenotype correlation and outcome of these diseases their impact on the quality of life of patients, and for evaluating diagnostic and therapeutic strategies a patient registry [en.wikipedia.org]

[…] an apparently asymptomatic period of months or even years with various symptoms such as mental retardation, episodes of chorea, vertical gaze palsy and delirium, or progressive spastic diplegia and optic atrophy. 2, 3 Metabolic Derangement, Including Pathophysiology [mhmedical.com]

Carriers usually do not show signs or symptoms of the disorder. [2] Pathophysiology [ edit ] Glycine is the simplest amino acid, having no stereoisomers. [en.wikipedia.org]

Pathophysiology Genetics D-Glyceric acidemia has an autosomal recessive pattern of inheritance. Mutations in the AMT and GLDC genes cause glycine encephalopathy. [wikidoc.org]

Physiological and pathophysiological roles of excitatory amino acids during central nervous system development. Brain Res Brain Res Rev 1990;15:41-70. 5. Hennermann JB. Clinical variability in glycine encephalopathy. Future Neurol 2006;1:621-30. 6. [pediatricneurosciences.com]

Tada K, Kure S (1993) Non-ketotic hyperglycinaemia: molecular lesion, diagnosis and pathophysiology. J Inherit Metab Dis 16:691–703 PubMed CrossRef Google Scholar 2. [link.springer.com]

Mutations in either the AMT or GLDC gene prevent the complex from breaking down glycine properly. When glycine cleavage enzyme is defective, excess glycine can build up to toxic levels in the body's organs and tissues. [wikidoc.org]

Prevention of secondary complications: For those on sodium benzoate, monitor plasma carnitine concentration and supplement with carnitine as needed. [ncbi.nlm.nih.gov]

Mutations in any of these genes prevent the complex decomposes glycine correctly, which can lead to accumulation of glycine to toxic concentrations in the organs and tissues. [ivami.com]

Defects in the GSC proteins can prevent the complex from functioning properly or can prevent the GCS complex from forming entirely. [en.wikipedia.org]