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Congenital Disorder of Glycosylation Type 1Q

SRD5A3-CDG


Presentation

  • The abnormal Glcβ1-3Fuc O -linked disaccharides on thrombospondin type 1 repeats of Peters’ Plus syndrome 5 are not present in serum transferrin and, thus, TIEF screening is not indicated in the diagnostics of this disease.[nature.com]
  • Case presentation We present 2 brothers at the age of 38 and 40 years with an initial diagnosis of cerebellar ataxia.[bmcmedgenet.biomedcentral.com]
  • Hypoplastic pituitary gland was present in all three investigated children. Ichthyosiform dermatitis appeared in infancy in all surviving children.[onlinelibrary.wiley.com]
  • Congenital cardiac defects, ichthyosis, and hypertrichosis may be present. The skin over the dorsum of the hands and feet often appears dark. Ataxia is sometimes present and MRIs may reveal vermal and cerebellar hypoplasia.[disorders.eyes.arizona.edu]
Turkish
  • […] a Polish Turkish a Turkish a Turkish a Turkish a Laboratory findings Elevated liver enzymes NA Abnormal coagulation NA NA Decreased AT3/Proteins C and S NA NA Microcytic anemia NA Type I TIEF pattern Normal LLO analysis b Genetic findings Mutation c.286[academic.oup.com]
  • Clinical features Utine et al. (2013) reported 3 boys from a consanguineous Turkish kindred with cerebellar ataxia. The 8-year-old proband was described in detail.[findzebra.com]
  • Both of the previously reported Turkish patients with p.W19X were initially diagnosed with CDG-x [ 12, 13 ] but later shown to have SRD5A3 mutation [ 4 ].[bmcmedgenet.biomedcentral.com]
  • The researchers in Göttingen investigated a Turkish family with two cousins who manifested developmental delay, mild intellectual disability, pronounced primary microcephaly and short stature and were clinically diagnosed with a Bloom syndrome-like disorder[humangenetik-umg.de]
Difficulty Walking
  • All patients had delayed psychomotor development with hypotonia, truncal and appendicular ataxia, and difficulty walking; 1 patient was wheelchair-bound at age 14 years. All patients also showed occasional or persistent tonic upgaze and nystagmus.[findzebra.com]
Swelling
  • Urine Blockage : When a defect in the urinary tract blocks the flow of urine, the urine backs up and causes the ureters to swell, called hydroureter , and hydronephrosis.[familydiagnosis.com]
Cutis Laxa
  • Morava E, Guillard M, Lefeber DJ, Wevers RA : Autosomal recessive cutis laxa syndrome revisited. Eur J Hum Genet 2009; 17 : 1099–1110.[nature.com]
  • Keywords Galactosemia Cutis Laxa Conserve Oligomeric Golgi Hepatic Vein Thrombosis Congenital Dyserythropoietic Anemia These keywords were added by machine and not by the authors.[sfx.gbv.de]
  • Laxa, Autosomal Recessive, Type IIA Cutis Laxa, Autosomal Recessive, Type IIB Cutis Laxa, Autosomal Recessive, Type IIIA Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblasticanemia,[familydiagnosis.com]
  • laxa, Debré type [ ] Autosomal recessive cutis laxa, pulmonary emphysema type [ ] Autosomal recessive cutis laxa type 1 [ ] Autosomal recessive cutis laxa type 2 [ ] Autosomal recessive cutis laxa with severe systemic involvement [ ] Autosomal recessive[wikicure.fandom.com]
Skin Lesion
  • lesions, abnormal coagulation, and psychomotor retardation, bearing in mind that a normal TIEF pattern does not exclude the diagnosis.[bmcmedgenet.biomedcentral.com]
  • Septo-optic dysplasia in combination with a pigmented skin lesion: a case report with nosological discussion. Eur J Paediatr Neurol 2000;4:189–93. PubMed Crossref Google Scholar 33. Anderson ML.[degruyter.com]
  • Ichthyosiform skin lesions may support the clinical suspicion. Funding Financial support by the European Commission sixth framework program is gratefully acknowledged (Euroglycanet grant LSHM-CT2005-512131).[academic.oup.com]
Muscle Hypotonia
  • Muscle hypotonia developed at the age of 5 months, and severe mental delay, visual impairment, optic atrophy, nystagmus, cerebellar ataxia, and recurrent episodes of reduced activity followed [ 12 ].[bmcmedgenet.biomedcentral.com]
  • All patients presented with early clinical symptoms, mostly muscle hypotonia and visual problems in the first 6 months of life. Several had a severe delay in early motor development.[academic.oup.com]
  • hypotonia, intellectual disability, and cerebellar ataxia. 3, 4 Biochemically, SRD5A3-CDG is characterized by a transferrin isoelectric focusing pattern that is typical of CDG-I. 5 Defective glycan synthesis results in altered sialotransferrin forms,[jamanetwork.com]
Suggestibility
  • It was suggested that cataracts could develop later in patients with SRD5A3-CDG, if not already present at infancy [ 4 ].[bmcmedgenet.biomedcentral.com]
  • […] next-generation sequencing in three affected siblings showing mental retardation, cataract, coloboma, dysmorphic features and kyphosis, Kahrizi et al. 1 reported a novel mutation in the recently discovered 5α-reductase type 3 ( SRD5A3 ) gene. 2 The authors suggest[nature.com]
  • This latter series of patients suggests that a gene/genes affecting anterior segment embryogenesis reside at the 22q11.2 locus.[molvis.org]
  • We suggest that these children have a new autosomal recessive syndrome of ocular colobomas and ichthyosis. 2008 Wiley‐Liss, Inc.[onlinelibrary.wiley.com]
Ataxia
  • Vermeer S, Kremer HP, Leijten QH et al : Cerebellar ataxia and congenital disorder of glycosylation Ia (CDG-Ia) with normal routine CDG screening. J Neurol 2007; 254 : 1356–1358. 7.[nature.com]
  • Case presentation We present 2 brothers at the age of 38 and 40 years with an initial diagnosis of cerebellar ataxia.[bmcmedgenet.biomedcentral.com]
  • ataxia, ocular movement abnormalities, and intellectual disability.[findzebra.com]
  • […] syndrome [ ] Ataxia - delayed dentition - hypomyelination [ ] Ataxia - diabetes - goiter - gonadal insufficiency [ ] Ataxia - hypogonadism - choroidal dystrophy [ ] Ataxia - oculomotor apraxia type 1 [ ] Ataxia - oculomotor apraxia type 2 [ ] Ataxia[wikicure.fandom.com]
Cerebellar Ataxia
  • Case presentation We present 2 brothers at the age of 38 and 40 years with an initial diagnosis of cerebellar ataxia.[bmcmedgenet.biomedcentral.com]
  • Vermeer S, Kremer HP, Leijten QH et al : Cerebellar ataxia and congenital disorder of glycosylation Ia (CDG-Ia) with normal routine CDG screening. J Neurol 2007; 254 : 1356–1358. 7.[nature.com]
  • Clinical features Lise et al. (2012) reported a consanguineous Pakistani family in which 3 individuals had early-onset cerebellar ataxia and cognitive impairment.[findzebra.com]
  • ataxia type 1 [ ] Autosomal dominant cerebellar ataxia type 3 [ ] Autosomal dominant cerebellar ataxia type 4 [ ] Autosomal dominant cerebellar ataxia type I [ ] Autosomal dominant cerebellar ataxia type III [ ] Autosomal dominant cerebellar ataxia type[wikicure.fandom.com]
Dysmetria
  • Physical examination showed poor overall growth, rotatory nystagmus, truncal ataxia, oculomotor apraxia, pale optic disc, dysmetria, and dysdiadochokinesis.[findzebra.com]
  • Recent examinations of both patients revealed ataxic gait, dysmetria, dysdiadochokinesia, and scanning speech. Muscle tonus was normal, deep tendon reflexes were increased, and Achilles clonus was present. No pathologic reflex was observed.[bmcmedgenet.biomedcentral.com]
  • Acidosis Congenital onset Rare Symptoms - Less than 30% cases Dehydration Short stature Muscular hypotonia Motor delay Partial agenesis of the corpus callosum Hypoplasia of the corpus callosum Colpocephaly Cavum septum pellucidum Hyperreflexia Nystagmus Dysmetria[mendelian.co]
Hyperreflexia
  • By age 4 years, he had ataxia with gross and fine motor delay, oculomotor apraxia, dystonic movements of the face, hands, and feet, and hyperreflexia.[findzebra.com]
  • […] myelinated nerve fibers Corpus callosum atrophy Urinary bladder sphincter dysfunction Overweight Abnormality of the periventricular white matter Impaired vibration sensation in the lower limbs Axonal loss Ankle clonus Macular degeneration Lower limb hyperreflexia[mendelian.co]
Clonus
  • […] pyramidal sign Decreased number of peripheral myelinated nerve fibers Corpus callosum atrophy Urinary bladder sphincter dysfunction Overweight Abnormality of the periventricular white matter Impaired vibration sensation in the lower limbs Axonal loss Ankle clonus[mendelian.co]
  • Muscle tonus was normal, deep tendon reflexes were increased, and Achilles clonus was present. No pathologic reflex was observed. Cranial nerves were intact. The mental performance of the younger patient seemed much better.[bmcmedgenet.biomedcentral.com]

Workup

  • Biochemical workup included renal and liver function tests, glucose, insulin, C-peptide, and glucagon levels.[docksci.com]

Treatment

  • Treatment Treatment Options: No treatment has been reported.[disorders.eyes.arizona.edu]
  • The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
  • As researchers develop potential treatments, eyeGENE will help facilitate patient recruitment for clinical trials, Dr. Sieving said.[newsfromaoa.wordpress.com]

Prognosis

  • A large clinical spectrum can be observed, from children with severe epilepsy and intellectual and motor deficit to cases with severe cerebral dysgenesis in the antenatal period leading to pregnancy termination due to the severity of the prognosis.[findzebra.com]
  • Research output : Contribution to journal › Article Prevalence and prognosis of Alzheimer's disease at the mild cognitive impairment stage Vos, S. J.[kclpure.kcl.ac.uk]

Etiology

  • We excluded storage disorders such as mucopolysaccharidosis type IV, which can present from birth in the form of CCO, along with all other metabolic causes and storage disorders, as etiologically distinct.[molvis.org]
  • A wide spectrum of disorders caused by diverse monogenic etiologies resembles DS.[docksci.com]

Epidemiology

  • A clinical, genetic, and epidemiological study. Clin Genet 19: 233–256. PubMed Google Scholar Julius CE, Keeran M (1971) Netherton’s syndrome in a male. Arch Dermatol 104: 422–424.[link.springer.com]
  • Epidemiology PLMD is estimated to occur in approximately 4% of adults (aged 15–100),J Psychosom Res. 2002 Jul;53(1):547-54. It is more commonly reported in the elderly and those with the previous medical conditions stated earlier.[findzebra.com]
  • Idiopathic short stature: Definition, epidemiology, and diagnostic evaluation. Growth Hormone and IGF Research, 18 (2), 89-110. DOI: 10.1016/j.ghir.2007.11.004. Publication link: 7aef42d3-bc44-4fb5-bc31-fef601ada656 Yesudian, P. D., Berry, J.[research.bmh.manchester.ac.uk]
  • Optic nerve hypoplasia syndrome: a review of the epidemiology and clinical associations. Curr Treat Options Neurol 2013;15:78–89. Google Scholar 12. Berger S, Bosmia AN.[degruyter.com]
Sex distribution
Age distribution

Pathophysiology

  • In the present article, we review emerging preclinical and clinical evidence related to these effects, and discuss some of the potential mechanisms underlying the role of S5αR in the pathophysiology of mental disorders.[ingentaconnect.com]
  • We report the clinical, molecular, and biochemical characterization of three new patients with DS, and address genotype–phenotype issues playing a role in the pathophysiology of DS.[docksci.com]

Prevention

  • “It’s important to know the type of genetics disease in the population so that you can prevent them. And the way we prevent it is by identifying the gene.[adwonline.ae]
  • Three and a half years later, the investigation case files are well known to many - to those who took the time to read them; and so are the diligences that a hasty archival prevented the Judiciary Police of concluding.[joana-morais.blogspot.com]
  • Two of these agents, finasteride and dutasteride, have received official approval for the treatment of benign prostatic hyperplasia and are being tested for prevention of prostate cancer.[ingentaconnect.com]
  • Noting that the fracture sites coincided with the previously attempted IV placement sites, a jugular Hickman catheter was placed to prevent such reoccurrences.[cags.org.ae]
  • ., May 2019, In : European journal of cancer prevention : the official journal of the European Cancer Prevention Organisation (ECP). 28, 3, p. 203-211 9 p.[moh-it.pure.elsevier.com]

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