Symptoma

Disorder of Pyrimidine Metabolism

Abstract The disorders of purine and pyrimidine metabolism are unusual in their variety of clinical presentations and in the mechanisms by which these presentations result from the fundamental mutations. [ncbi.nlm.nih.gov]

The presentation is most commonly monoarticular, typically in the metatarsophalangeal joint of the big toe. [clinicalgate.com]

Esther Zoref-Shani, Oded Sperling Springer Science & Business Media, 2001/01/31 - 424 ページ th This volume contains articles presented at the X International Symposium on Purines and Pyrimidines in Man, held on May 14 19, 2000 in Tel Aviv, Israel. [books.google.com]

More severely affected patients present with neonatal seizures. Hypotonia, autistic features, and growth retardation may occur. [musculoskeletalkey.com]

This review gathers the presently known inborn errors of purine and pyrimidine metabolism that manifest neurological syndromes, reporting and commenting on the available hypothesis on the possible link between specific enzymatic alterations and brain [ingentaconnect.com]

  • Hyperthermia

    Patients with muscle adenylate deaminase deficiency also appear to be at higher risk for malignant hyperthermia. In general, no specific therapy exists. Ribose administration has resulted in varying responses. [musculoskeletalkey.com]

  • Recurrent Bacterial Infection

    bacterial infections, defective Ig class switching Treatment: Control of infections *Gene has been identified, and molecular basis has been elucidated. [merckmanuals.com]

  • Cyanotic Congenital Heart Disease

    Increased production of uric acid is found in malignancy; Reye syndrome; Down syndrome; psoriasis; sickle cell anemia; cyanotic congenital heart disease; pancreatic enzyme replacement; glycogen storage disease types I, III, IV, and V; hereditary fructose [clinicalgate.com]

  • Dysphagia

    […] hyperuricosuria Clinical features: Orange sandy crystals in diapers, growth failure, uric acid nephropathy and arthropathy, motor delay, hypotonia, self-injurious behavior, spasticity, hyperreflexia, extrapyramidal signs with choreoathetosis, dysarthria, dysphagia [merckmanuals.com]

  • Dysphagia

    […] hyperuricosuria Clinical features: Orange sandy crystals in diapers, growth failure, uric acid nephropathy and arthropathy, motor delay, hypotonia, self-injurious behavior, spasticity, hyperreflexia, extrapyramidal signs with choreoathetosis, dysarthria, dysphagia [merckmanuals.com]

  • Low Set Ears

    AICA-RIBOSIDURIA (ATIC DEFICIENCY) In a female infant with profound mental retardation, dysmorphic features (prominent forehead, brachycephaly, wide mouth, low-set ears, prominent clitoris), and blindness, the following were identified: a massive excretion [obgynkey.com]

  • Head Banging

    The type of behavior is different from that seen in other intellectual disability syndromes involving self-injury; self-hitting and head banging are the most common initial presentations in other syndromes. [clinicalgate.com]

  • Neonatal Seizures

    More severely affected patients present with neonatal seizures. Hypotonia, autistic features, and growth retardation may occur. [musculoskeletalkey.com]

    seizures, mild to profound mental retardation, and autistic features. [obgynkey.com]

  • Hyperreflexia

    […] phosphoribosyltransferase HPRT (Xq26-q27.2)* Biochemical profile: Hyperuricemia, hyperuricosuria Clinical features: Orange sandy crystals in diapers, growth failure, uric acid nephropathy and arthropathy, motor delay, hypotonia, self-injurious behavior, spasticity, hyperreflexia [merckmanuals.com]

  • Dysarthria

    Hyperuricemia, hyperuricosuria Clinical features: Orange sandy crystals in diapers, growth failure, uric acid nephropathy and arthropathy, motor delay, hypotonia, self-injurious behavior, spasticity, hyperreflexia, extrapyramidal signs with choreoathetosis, dysarthria [merckmanuals.com]

  • Motor Symptoms

    HPRT levels are related to the extent of motor symptoms, to the presence or absence of self-injury, and possibly to the level of cognitive function. The majority of individuals with classic LND have low or undetectable levels of the HPRT enzyme. [clinicalgate.com]

Such a medical practice appears more reasonable than a costly systematic workup. [journals.plos.org]

  • Hyperuricosuria

    Renal dysfunction is thought to be related to underlying hypertension and renal vascular disease, rather than to hyperuricosuria. [musculoskeletalkey.com]

    Recurrent episodes of monoarticular or multiarticular arthritis Treatment: No clear treatment Lesch-Nyhan syndrome (300322) Classic form Variant form Hypoxanthine-guanine phosphoribosyltransferase HPRT (Xq26-q27.2)* Biochemical profile: Hyperuricemia, hyperuricosuria [merckmanuals.com]

    This extremely rare, X-linked, gain-of-function enzyme anomaly causes hyperuricemia and hyperuricosuria in young adult males, which may lead to uric acid lithiasis, gouty arthritis, and renal insufficiency. [obgynkey.com]

  • Hypsarrhythmia

    Phosphoribosylpyrophosphate synthetase deficiency (311850) Phosphoribosylpyrophosphate synthetase PRPS1 (Xq22-q24) PRPS2 (Xp22.3-p22.2) Biochemical profile: Increased urinary orotate, hypouricemia Clinical features: Developmental disabilities, seizures with hypsarrhythmia [merckmanuals.com]

  • Anisopoikilocytosis

    Supportive care, enzyme replacement, bone marrow or stem cell transplantation, experimental gene therapy Increased adenosine deaminase (102730) Adenosine deaminase ADA Biochemical profile: Mild hyperuricemia Clinical features: Hemolytic anemia with anisopoikilocytosis [merckmanuals.com]

  • Uric Acid Decreased

    Primary gout, ordinarily occurring in middle-aged men, results from overproduction of uric acid, decreased renal excretion of uric acid, or both. [clinicalgate.com]

  • Megaloblastic Bone Marrow

    bone marrow, ataxia, hypotonia, hypertonia, psychomotor delay, polyneuropathy, cardiomyopathy, heart failure, uric acid nephropathy and arthropathy, diabetes mellitus, intracerebral calcification Treatment: Allopurinol, anti-inflammatory drugs, colchicines [merckmanuals.com]

    These deficiencies result in two types of orotic aciduria (type 1 and type 2) that cause retarded growth, and severe anemia associated with hypochromic erythrocytes and megaloblastic bone marrow, both of which are the result of the block to DNA synthesis [themedicalbiochemistrypage.org]

No clear treatment Lesch-Nyhan syndrome (300322) Classic form Variant form Hypoxanthine-guanine phosphoribosyltransferase HPRT (Xq26-q27.2)* Biochemical profile: Hyperuricemia, hyperuricosuria Clinical features: Orange sandy crystals in diapers, growth [merckmanuals.com]

Secondary gout also may be seen during treatment with diuretics, low-dose salicylates, pyrazinamide, ethambutol, and niacin or during the treatment of malignant diseases. [musculoskeletalkey.com]

Treatment with adenine and allopurinol and with ribose have been tried with little success. [obgynkey.com]

The concentration of uric acid can be reduced by using the drug allopurinol, but there is no satisfactory treatment for the neurological symptoms associated with Lesch-Nyhan disease. [medicine.jrank.org]

Certain conditions have both an underlying etiology and multiple body system manifestations due to the underlying etiology. [icd10coded.com]

The biochemical etiology of gout is unknown for most of those affected, and it is considered to be a polygenic trait. [clinicalgate.com]

Patients also have a number of cognitive and behavioral dysfunctions, etiology of which is unclear; they do not appear related to uric acid. [chumy.wordpress.com]

Conclusions and Perspectives The data reported here strongly support the view already stressed by others [20], [44] that systematic metabolic investigations are not contributive to the etiology of nonsyndromic ASD. [journals.plos.org]

GARROD'S HYPOTHESIS: It states that "all inherited diseases result from defects found in a single gene," as opposed to multifactorial etiology of diseases. [kumc.edu]

Epidemiology The incidence is 40 cases/100,000 live births in a Canadian study [ 1 ]. A much higher incidence of 1 in 784 live births has been reported from the West Midlands in the UK [ 2 ]. [patient.info]

Nidiffer FD, Kelly TE (1983) Developmental and degenerative patterns associated with cognitive, behavioural and motor difficulties in the Sanfilippo syndrome: an epidemiological study. J Ment Defic Res 27 (Pt 3): 185–203. [journals.plos.org]

"Prevention of IDDM: The Genetic Epidemiologic Perspective." Diabetes Research and Clinical Practice 34:S101 – S1006. Mandrup-Paulson, Thomas (1998). "Recent Advances: Diabetes." British Medical Journal 316(18):1221 – 1225. [encyclopedia.com]

[…] with symptoms suspicious for disorders of purine and pyrimidine metabolism Monitoring patients with disorders of purine and pyrimidine metabolism Laboratory evaluation of primary and secondary hyperuricemias Clinical Information Discusses physiology, pathophysiology [mayomedicallaboratories.com]

Stockler S, Schutz PW, Salomons GS (2007) Cerebral creatine deficiency syndromes: clinical aspects, treatment and pathophysiology. Subcell Biochem 46: 149–166. View Article Google Scholar 24. [journals.plos.org]

Succinct, targeted coverage of normal childhood growth and development, as well as the diagnosis, management, and prevention of common pediatric diseases and disorders, make this an ideal medical reference book for students, pediatric residents, nurse [books.google.com]

The patient may ask for restraints to prevent elbow movement; when the restraints are placed or replaced, the patient may appear relaxed and better humored. [clinicalgate.com]

To prevent stone formation, high fluid intake is recommended and urine alkalinized. [obgynkey.com]

Patiens with ADA or PNP deficiency can be treated with bone marrow transplantation which provides B and T cells with sufficient enzyme activities to prevent the accumulation of the toxic nucleosides and nucleotides. [home.kpn.nl]

Strict compliance is necessary to prevent neurological damage. Glycine - nonketotic hyperglycinaemia, or glycine encephalopathy: It is caused by deficiency of the glycine cleavage multi-enzyme system. [patient.info]