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Adenylosuccinate Lyase Deficiency

ADSL Deficiency


Presentation

  • The severity of the clinical presentation correlates with a low S-Ado/SAICAr ratio in body fluids. We report the first British case of ADSL deficiency. The patient presented at 14 days with a progressive neonatal encephalopathy and seizures.[ncbi.nlm.nih.gov]
Failure to Thrive
  • It is characterized by sparse, kinky hair; failure to thrive; and progressive deterioration of the nervous system.[checkrare.com]
  • Considerations in Older Infants and Children Older infants with inborn errors of metabolism may demonstrate paroxysmal stupor, lethargy, emesis, failure to thrive, or organomegaly.[aafp.org]
  • Epub 2012 Mar 29. [ PubMed:26069767 ] Sucrase-isomaltase deficiency Belmont JW, Reid B, Taylor W, Baker SS, Moore WH, Morriss MC, Podrebarac SM, Glass N, Schwartz ID: Congenital sucrase-isomaltase deficiency presenting with failure to thrive, hypercalcemia[hmdb.ca]
  • […] to thrive Progressive vitiligo T-cell lymphoma Abnormal T cell morphology Malar prominence Dysgammaglobulinemia Scrotal hypospadias Penoscrotal hypospadias Anorectal anomaly Recurrent infection of the gastrointestinal tract Pollakisuria B-cell lymphoma[mendelian.co]
Muscle Hypotonia
  • Rarely, patients display only mild psychomotor retardation or profound muscle hypotonia.[ommbid.mhmedical.com]
Hyperactivity
  • Here, we report on two sisters aged 11 and 12 years presented with global developmental delay, motor apraxia, severe speech deficits, seizures and behavioural features, which combined excessive laughter, a very happy disposition, hyperactivity, a short[ncbi.nlm.nih.gov]
  • Other less common manifestations include psychomotor delay, hyperactivity, speech impairment, muscular hypotonia, muscle wasting, and spasticity. Severely affected patients often have microcephaly.[orpha.net]
  • Disorder (ADHD) -affects about 5% of children worldwide -problems with social interaction and academic performance -subtypes: 1. inattentive 2. hyperactive/impulsive 3.combined Finding genetic associations -runs in families -no obvious transmission pattern[quizlet.com]
  • Amphetamine and dextroamphetamine is a combination medicine used to treat narcolepsy and attention deficit hyperactivity disorder (ADHD).[mottchildren.org]
  • Diseases related with Skeletal muscle atrophy and Attention deficit hyperactivity disorder In the following list you will find some of the most common rare diseases related to Skeletal muscle atrophy and Attention deficit hyperactivity disorder that can[mendelian.co]
Neonatal Seizures
  • , neonatal seizures, and marked psychomotor retardation.[ncbi.nlm.nih.gov]
  • Biotin-responsive holocarboxylase synthetase deficiency can also rarely present with neonatal seizures.[link.springer.com]
  • Seizures 1 1 Benign Familial Neonatal-Infantile Seizures 2 Benign Hereditary Chorea 1 Benign Recurrent Intrahepatic Cholestasis 1 2 Benign Recurrent Intrahepatic Cholestasis 2 2 Benign Scapuloperoneal Muscular Dystrophy With Cardiomyopathy 2 Bent bone[preventiongenetics.com]
Neurologic Manifestation
  • Differential diagnosis The differential diagnoses include neurological disorders with intractable seizures and encephalopathy, and other inborn errors of purine and pyrimidine metabolism with neurological manifestations.[orpha.net]
  • Differential diagnoses Differential diagnoses within ADSL deficiency include: Neurological disorders with intractable seizures and encephalopathy Other inborn errors of purine and pyrimidine (P/P) metabolism with neurological manifestations The wide clinical[link.springer.com]
Pyramidal Tract Signs
  • Fourthly, the psychomotor retardation is usually associated with other objective evidence of neurologic dysfunction, such as disorders of tone (hypotonia sometimes followed after years by spasticity), seizures, pyramidal tract signs or evidence of extrapyramidal[link.springer.com]

Workup

  • Atrophy of corpus callosum - - Behavioral Psychiatric Manifestations - Autistic features / - Hyperactivity - - Aggressive behavior - - Temper tantrums - - Stereotypic movements - Self-mutilation - - Happy demeanor - Inappropriate laughter - After a prior workup[ijponline.biomedcentral.com]

Treatment

  • However, early treatment with SAMe does not appear to be effective in ADSL deficiency.[ncbi.nlm.nih.gov]
  • Management and treatment There is currently no effective treatment for ADSL deficiency. Treatment is primarily supportive, aimed at controlling seizures.[orpha.net]

Prognosis

  • (Outcomes/Resolutions) The prognosis of individuals with Adenylosuccinate Lyase Deficiency is grim. Most individuals die in their early infancy, or during childhood.[dovemed.com]
  • Diagnosis - Adenylosuccinate lyase deficiency Prognosis - Adenylosuccinate lyase deficiency Several patients, particularly those presenting with early epilepsy, have died in infancy.[checkorphan.org]
  • [ edit ] The prognosis of this condition in childhood usually has a stable outcome, whereas in neonatal is almost always fatal, according to Jurecka, et al. [5] See also [ edit ] Adenylosuccinate Adenylosuccinate lyase List of genetic disorders References[en.wikipedia.org]
  • The prognosis of ADSL-deficient subjects is generally poor. Several patients, particularly those presenting with early epilepsy, have died in early infancy.[ommbid.mhmedical.com]
  • Prognosis Life expectancy in ADSL deficiency is variable. Neonatal forms may lead to early death, whereas onset in early childhood usually entails a stable course. The documents contained in this web site are presented for information purposes only.[orpha.net]

Etiology

  • The study of purines in all patients with neurological disease of unknown etiology is highly recommended.[ncbi.nlm.nih.gov]
  • Etiology ADSL is a defect of purine metabolism affecting purinosome assembly and reducing metabolite fluxes through purine de novo synthesis and purine nucleotide recycling pathways.[orpha.net]
  • . • Selective screening for adenylosuccinate lyase deficiency should be performed in patients who have neurologic disease without clear etiology, especially if MRI findings such as delayed or lack of myelination, white matter abnormal signal, and atrophy[medlink.com]
  • (Etiology) Adenylosuccinate Lyase Deficiency is caused by mutations in the adenylosuccinate lyase (ADSL) gene on chromosome 22q In many cases, these mutations are passed down through families, in an autosomal recessive pattern The mutations, which have[dovemed.com]
  • In summary, our study demonstrated the power and advantages of WES in exploring the etiology of human disease.[nature.com]

Epidemiology

  • This new edition contains several chapters on the associated problems of autism, such as intellectual disability, epilepsy, tics, eating disorders and sleep problems, as well as a chapter on epidemiology that documents the historical increase in autism[books.google.de]
  • Summary Epidemiology The prevalence and incidence of ADSL deficiency are unknown. More than 80 cases have been reported to date, mostly from Europe and the Mediterranean region. The disorder may be underdiagnosed as it is probably panethnic.[orpha.net]
  • Lotter , V ( 1996 ) Epidemiology of autistic conditions in young children . Social Psychiatry and Psychiatric Epidemiology 1 : 124–35.[apt.rcpsych.org]
  • In this review, we appraise the epidemiologic and clinical studies implicating low… Read the Rest...[drcalapai.net]
  • Genatlas disease for ADSL Gene mental retardation,severe,with autistic features and succinylpurinemia Relevant External Links for ADSL Genetic Association Database (GAD) ADSL Human Genome Epidemiology (HuGE) Navigator ADSL Atlas of Genetics and Cytogenetics[genecards.org]
Sex distribution
Age distribution

Pathophysiology

  • […] adenosine monophosphate (AMP) from S-AMP. [6] [5] [4] Presentation [ edit ] Among the signs and symptoms of adenylosuccinate lyase deficiency are the following: [2] Aggressive behavior Microcephaly Autism Brachycephaly Mild Cerebellar hypoplasia Seizures Pathophysiology[en.wikipedia.org]
  • Pathophysiologic mechanisms Hypotheses regarding the pathogenesis include toxicity of high levels of SAICAR, AMPS, or their metabolites, deficiency of the de novo purine biosynthetic pathway, or lack of a completely functional purine cycle in muscle and[link.springer.com]
  • Xanthine oxidoreductase - Role in human pathophysiology and hereditary xanthinuria. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic and molecular basis of inherited disease. New York: McGraw Hill, 2001 : 2653 –62.[jmg.bmj.com]

Prevention

  • Of note, the wide range of essentially nonspecific manifestations and lack of awareness of the condition often prevent diagnosis.[ncbi.nlm.nih.gov]
  • Currently there are no specific methods or guidelines to prevent Adenylosuccinate Lyase Deficiency genetic condition Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy[dovemed.com]
  • Symptoms - Adenylosuccinate lyase deficiency Causes - Adenylosuccinate lyase deficiency Prevention - Adenylosuccinate lyase deficiency ASLD is an inheritable, autosomal recessive disease, in which patients are only affected if they inherit from both of[checkorphan.org]
  • This information may have enormous impact in the era of enzyme replacement therapy and thus this condition could be to some extent preventable, once proper genetic counseling and testing for carriers of the mutations in families with this condition is[discovery.ucl.ac.uk]
  • Amylase Inhibitors Amylase inhibitors are also known as starch blockers because they contain substances that prevent dietary starches from being absorbed by the body.[mottchildren.org]

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