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2-Aminoadipic 2-Oxoadipic Aciduria

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Presentation

  • Homepage Rare diseases Search Search for a rare disease 2-aminoadipic 2-oxoadipic aciduria Disease definition 2-aminoadipic 2-oxoadipic aciduria is a rare disorder of lysine and hydroxylysine metabolism characterized by variable clinical presentation[orpha.net]
  • Data are presented as the mean of four independent measurements the standard deviation. p 0.05, p 0.01, p 0.001.[ncbi.nlm.nih.gov]
Osteoporosis
  • […] lyase deficiency AGAT deficiency Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus Albinism alkaptonuria Alpha-Ketoglutarate Dehydrogenase Deficiency Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis[rgd.mcw.edu]
  • She developed diabetes at age 22 years, and also had osteoporosis with no other bony abnormalities.[findzebra.com]
  • […] appearance syndrome Acromegaly Acromesomelic dwarfism Acromesomelic dysplasia, Grebe type Acromesomelic dysplasia, Hunter-Thomson type Acromesomelic dysplasia, Maroteaux type Acrometageria Acromicric dysplasia Acroosteolysis dominant type Acroosteolysis with osteoporosis[csbg.cnb.csic.es]
Behavior Disorder
  • disorders, most commonly attention deficit hyperactivity disorder.[orpha.net]
  • Disorders 300491 Genetic Test Registry Epileptic Encephalopathy, Childhood-Onset EEOC 615369 Genetic Test Registry Epileptic Encephalopathy, Early Infantile, 1 Iinfantile Epileptic-Dyskinetic Encephalopathy Infantile Spasm Syndrome, X-Linked 1 Ohtahara[ukgtn.nhs.uk]
  • disorders X-linked HSAS X-linked hydrocephalus with stenosis of aqueduct of Sylvius X-linked hyper-IgM syndrome X-linked hypohidrotic ectodermal dysplasia X-linked hypophosphatemia X-linked hypophosphatemic rickets X-linked ichthyosis X-linked immunodeficiency[csbg.cnb.csic.es]
Withdrawn
  • […] hyperactivity disorder ; Autosomal recessive inheritance ; Delayed speech and language development ; Generalized hypotonia ; Global developmental delay ; Intellectual disability, mild ; Microcephaly ; Phenotypic variability Associated Genes DHTKD1 (Withdrawn[mousephenotype.org]
Psychomotor Retardation
  • retardation - progressive brain atrophy - basal ganglia disease Infantile spasms Infantile spinal muscular atrophy Infantile subacute necrotizing encephalopathy with leukodystrophy Infantile subacute necrotizing encephalopathy with nephrotic syndrome[csbg.cnb.csic.es]
Abnormal Behavior
  • behavior syndrome X-linked isolated neurosensory deafness type DFN X-linked isolated neurosensory hearing loss type DFN X-linked isolated sensorineural deafness type DFN X-linked isolated sensorineural hearing loss type DFN X-linked juvenile retinoschisis[csbg.cnb.csic.es]
Hyperactivity
  • […] disorder of lysine and hydroxylysine metabolism characterized by variable clinical presentation including hypotonia, developmental delay, mild to severe intellectual disability, ataxia, epilepsy and behavioral disorders, most commonly attention deficit hyperactivity[orpha.net]
  • Name 2-Aminoadipic 2-Oxoadipic Aciduria Synonyms - Classification genetic, metabolism Phenotypes Aminoaciduria ; Attention deficit hyperactivity disorder ; Autosomal recessive inheritance ; Delayed speech and language development ; Generalized hypotonia[mousephenotype.org]
  • At 11 years of age, she was diagnosed with attention deficit hyperactivity disorder. Symptoms improved after implementation of methylphenidate.[ncbi.nlm.nih.gov]

Treatment

  • . , exposure to a dietary component or a drug) were then seen to yield to treatment.[books.google.ro]
  • 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 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]
  • Such information is not a substitute for seeing an appropriate healthcare professional for medical treatment. The information contained in these communications and resources may be compiled from a variety of sources.[emergesphinx.org]

Etiology

  • Many tissues and organs are affected in metabolic diseases, often severally, and understanding the etiology of some of these more atypical symptoms challenges existing paradigms in diagnosis.[centogene.com]
  • Maldonado et al. (2003) concluded that ketosis -prone diabetes comprises at least 4 etiologically distinct syndromes separable by autoantibody status, HLA genotype, and beta-cell functional reserve.[findzebra.com]

Epidemiology

  • Relevant External Links for DHTKD1 Genetic Association Database (GAD) DHTKD1 Human Genome Epidemiology (HuGE) Navigator DHTKD1 Atlas of Genetics and Cytogenetics in Oncology and Haematology: DHTKD1 No data available for Genatlas for DHTKD1 Gene Prediction[genecards.org]
  • Data from combined studies has involved 2,000,000 samples from routine analyses and international screening programs of roughly 7,000 patients diagnosed with different LSDs demonstrates our expertise in these diseases including precise epidemiological[centogene.com]
Sex distribution
Age distribution

Pathophysiology

  • J Med Chem. 1996 Aug 2;39(16):3188-94. [ PubMed:8759641 ] Hori S: [Pathophysiology of intraocular neovascularization].[hmdb.ca]

Prevention

  • Phenylketonuria (PKU) was then shown to be a treatable genetic disease in which early diagnosis and effective treatment prevented the disease (mental retardation) in PKU.[books.google.ro]
  • Educational Resources The eMERGESPHINX.org website includes information regarding medical and health related topics and research or preventive care articles containing specific medical and health related information and links to other related websites[emergesphinx.org]
  • Of note, DHTKD1 is the enzymatic step before the protein deficient in glutaric aciduria type I and pharmacological inhibition of DHTKD1 is likely to prevent accumulation of toxic metabolites in this disease.[klinikum.uni-heidelberg.de]
  • Indoxyl sulfate as a biomarker of prebiotic efficacy for weight gain prevention US10094819B2 ( en ) 2012-12-04 2018-10-09 Nestec S.A.[google.com]
  • Protein restriction was effective in preventing ketoacidotic episodes, although carnitine therapy was seen as less effective.[findzebra.com]

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