The clinical presentation of inborn errors of pyrimidine degradation varies considerably from asymptomatic to severe neurological illness. [ncbi.nlm.nih.gov]

We detected a second but asymptomatic case during a pilot study of neonatal screening with filter-paper urine, urease pretreatment and gas chromatography/mass spectrometry (GC/MS). [wwww.unboundmedicine.com]

Highly variable phenotypes ranging from neurological involvement (including convulsions and autism) to asymptomatic, were observed in diagnosed patients. [diva-portal.se]

Four Dutch patients have been ascertained following investigation of neurologic and other problems and five asymptomatic Japanese patients by population screening. [ommbid.mhmedical.com]

Beta-aminoisobutyric acid increases the production of a protein called leptin, which has been found to help protect brain cells from damage caused by toxins, inflammation, and other factors. [ghr.nlm.nih.gov]

Disease Glycogenosis, Type IB Glycogenosis, Type IC Homocarnosinosis Hyperinsulinism-Hyperammonemia Syndrome Isobutyryl-CoA Dehydrogenase Deficiency Isovaleric Acidemia Isovaleric Aciduria Lactic Acidemia Leigh Syndrome LPS and Citrate Signaling and Inflammation [smpdb.ca]

Label-free quantitative proteomics by nanoLC–MS/MS was applied to urine of severe AP patients and found that severe AP is accompanied with kidney injury and inflammation. [chemweb.com]

Statin reduces persistent coronary arterial inflammation evaluated by serial 18Fluorodeoxyglucose positron emission tomography imaging long after Kawasaki disease. [docsplayer.net]

This information is not intended to be patient education, does not create any patient-physician relationship, and should not be used as a substitute for professional diagnosis and treatment. [diseaseinfosearch.org]

ON and SK negotiated a listing; physicians have criticized access criteria as lacking clinical sense and developed without consultation. [garrodsymposium.com]

Laboratory physicians and scientists need to be aware of techniques to identify macroenzyme complexes when suspected.To investigate the possibility of a macro-alkaline phosphatase in the serum of a 74 year old male with persistently increased alkaline [chemweb.com]

The patient presented with an early-onset dystonic movement disorder, severe developmental delay with marked impairment of visual responsiveness in combination with severely delayed myelination in magnetic resonance imaging studies. [ncbi.nlm.nih.gov]

disorder bimanual synkinesis, see congenital mirror movement disorder BIOT, see biotinidase deficiency biotin-responsive basal ganglia disease, see biotin-thiamine-responsive basal ganglia disease biotin-thiamine-responsive basal ganglia disease biotinidase [herenciageneticayenfermedad.blogspot.com]

Of 69 patients with abnormal neurotransmitter values (analyzed 2009-2013), 43 (62.3%) presented with epilepsy and 20 (28.9%) with movement disorders. A combination of seizure and movement disorder was significantly less frequent. [garrodsymposium.com]

0002650ScoliosisMP:0020309increased creatine kinase activityincreased ability of to catalyze the reaction: ATP creatine N-phosphocreatine ADP 2 H( ).HP:0001319Neonatal hypotoniaMP:0020214susceptible to malignant hyperthermiaincreased susceptibility to hyperthermia [pediascape.org]

[…] mitochondrial structural abnormalities Congenital muscular dystrophy without intellectual disability Congenital muscular dystrophy, Ullrich type Congenital myasthenic syndromes with glycosylation defect Congenital myopathy - cleft palate - malignant hyperthermia [csbg.cnb.csic.es]

At admission to the hospital, he was febrile, alert and without respiratory abnormalities, but with a heart rate of about 240 beats per minute. [hmg.oxfordjournals.org]

[…] deficiency Transgrediens et progrediens palmoplantar keratoderma Transgrediens et progrediens PPK Transgrediens palmoplantar keratoderma of Siemens Transient bullous dermolysis of the newborn Transient familial neonatal hyperbilirubinemia Transient neonatal cyanosis [csbg.cnb.csic.es]

impairment-urinary anomalies Hypothyroidism - cleft palate Hypothyroidism - dysmorphism - postaxial polydactyly - intellectual deficit Hypothyroidism due to deficient transcription factors involved in pituitary development or function Hypothyroidism [csbg.cnb.csic.es]

RT-PCR analysis of the complete beta-ureidopropionase cDNA suggested that both splice-site mutations lead to a variety of alternative splice variants, with deletions of a single or several exons. [ncbi.nlm.nih.gov]

Researchers suggest that in many affected individuals with absent or mild neurological problems, the condition may never be diagnosed. [ghr.nlm.nih.gov]

Read more about the causes of dystonia. Dystonia with no obvious cause, or caused by a genetic mutation, is known as primary dystonia. If dystonia is a symptom of another condition, it's known as secondary dystonia. [familydiagnosis.com]

Ataxia with vitamin E deficiency Ataxia-oculomotor apraxia type 1 Atypical glycine encephalopathy Atypical pantothenate kinase-associated neurodegeneration Autism spectrum disorder-epilepsy-arthrogryposis syndrome Autosomal dominant dopa-responsive dystonia [se-atlas.de]

[HPO:curators] Show HP:0001332 Dystonia "An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk." [manteia.igbmc.fr]

Autosomal recessive dopa-responsive dystonia # Dopa responsive dystonia due to sepiapterin reductase deficiency Hyperphenylalaninemia 6-pyruvoyl-tetrahydropterin synthase deficiency Dehydratase deficiency Dihydropteridine reductase deficiency GTP cyclohydrolase [repository.innermed.eu]

12 Dystonia 16 Dystonia 18 Dystonia musculorum deformans Dystonia-parkinsonism, Paisan-Ruiz type Dystrophic epidermolysis bullosa inversa Dystrophic epidermolysis bullosa pruriginosa Dystrophic epidermolysis bullosa, nails only DYT1 DYT11 DYT12 DYT16 [csbg.cnb.csic.es]

At 3 years of age, the patient showed psychomotor retardation (she learned to walk at 2 years of age), severe mental retardation and a speech disorder, although visual contact appeared to be normal. [hmg.oxfordjournals.org]

[…] angiopathy with nephropathy, aneurysms, and muscle cramps (HANAC) Alport syndrome Benign familial hematuria Nephrotic syndrome Focal segmental glomerulosclerosis Dent disease Urofacial syndrome Birt-Hogg-Dube syndrome Renal agenesis and Renal adysplasia Nephrolithiasis [csirnotes.com]

[…] type 1 Nephrolithiasis type 2 Nephronophthisis - hepatic fibrosis - tapetoretinal degeneration - intellectual deficit Nephronophthisis with retinal dystrophy Nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome Nephrotic syndrome-hearing [csbg.cnb.csic.es]

No activity of beta-ureidopropionase could be detected in a liver biopsy of the patient, while a normal activity of dihydropyrimidine dehydrogenase and dihydropyrimidinase was present. [ncbi.nlm.nih.gov]

No activity of β-ureidopropionase could be detected in a liver biopsy of the patient, while a normal activity of dihydropyrimidine dehydrogenase and dihydropyrimidinase was present. [link.springer.com]

[…] and dihydropyrimidine dehydrogenase was determined in a liver biopsy obtained from patient 3. [hmg.oxfordjournals.org]