Symptoma

Ketoadipicaciduria

We present four additional individuals from two families, with 2-ketoadipic aciduria with compound heterozygous or homozygous mutations in DHTKD1, three of which remain asymptomatic. [sparrho.com]

Adult onset glutaric aciduria type I presenting with leukoencephalopathy. Neurology. 2002;59:1802-04. Kolker S, Ramaekers VT, Zschocke J, et al. [rarediseases.org]

Commonly it presents before age 18 months with a sudden onset of encephalopathy, following which the child has a severe and persistent movement disorder. [adc.bmj.com]

During the past 15 years or so, there have been several reviews, dealing with either specific diseases or groups of diseases (Gompertz, 1972, 1974; Tanaka, 1975), or presenting the proceedings of symposia (Stern and Toothill, 1972) or workshops (Marner [bokus.com]

The relationship between these two syndromes is discussed in the light ofthe present cases and others in published reports. [claparly.gq]

  • Disability

    Intellectual disability MedGen UID: 334384 • Concept ID: C1843367 • Finding Motor delay MedGen UID: 381392 • Concept ID: C1854301 • Finding A type of Developmental delay characterized by a delay in acquiring motor skills. [ncbi.nlm.nih.gov]

    […] reported Treatment: None needed D-glyceric aciduria (220120) D-glycerate kinase Not determined Biochemical profile: Elevated urinary D-glyceric acid Clinical features: Chronic acidosis, hypotonia, seizures, intellectual disability Treatment: Bicarbonate [merckmanuals.com]

    Links Publisher Full Text Authors, ,, Source MeSH Adipates Adolescent Amino Acid Metabolism, Inborn Errors Humans Intellectual Disability Keto Acids Lysine Male Tryptophan Pub Type(s) Journal Article Language eng PubMed ID 1161338 Citation Wilson, R W [unboundmedicine.com]

    Humangenetik 24:265–270 PubMed Google Scholar Gilissen C, Hehir-Kwa JY, Thung DT et al (2014) Genome sequencing identifies major causes of severe intellectual disability. [link.springer.com]

  • Developmental Delay

    Intellectual disability MedGen UID: 334384 • Concept ID: C1843367 • Finding Motor delay MedGen UID: 381392 • Concept ID: C1854301 • Finding A type of Developmental delay characterized by a delay in acquiring motor skills. [ncbi.nlm.nih.gov]

    Patients with the aforementioned biochemical profile have been described with a wide range of clinical presentations, from early-onset developmental delay, epilepsy, ataxia, and microcephaly to completely normal. [sparrho.com]

    delay Tricarboxylic Acid Cycle, Defect of X-linked sideroblastic anemia with ataxia [rgd.mcw.edu]

    delay, hypotonia, extrapyramidal movements, seizures, autistic behavior Treatment: Creatine supplementation Cystinosis See Table Lysosomal Transport Defects *Gene has been identified, and molecular basis has been elucidated. [merckmanuals.com]

  • Epilepsy

    Recurrent seizures are usually referred to as EPILEPSY or "seizure disorder." [ncbi.nlm.nih.gov]

    Benign epilepsy of childhood with occipital paroxysms (BECOP). Benign Myoclonic Epilepsy in Infancy (BMEI) Benign Neonatal Convulsions (BNC) Benign nonprogressive familial chorea Benign Rolandic Epilepsy (BRE). [neurometplus.com]

    Patients with the aforementioned biochemical profile have been described with a wide range of clinical presentations, from early-onset developmental delay, epilepsy, ataxia, and microcephaly to completely normal. [sparrho.com]

  • Fatigue

    These include criteria for the diagnosis of multiple sclerosis, dementia of Lewy-body type, frontal lobe dementias, chronic fatigue syndrome, and inflammatory neuropathies. [books.google.ro]

    This inflammation leads to abdominal pain, fatigue, diarrhoea, weight loss and malnutrition. [digestive-diseases.imedpub.com]

  • Weakness

    In infants with acidosis, the initial symptoms include poor feeding, vomiting, loss of appetite, weak muscle tone (hypotonia), and lack of energy (lethargy). [t3db.ca]

    Disorders Disease (OMIM Number) Defective Proteins or Enzymes Defective Gene or Genes (Chromosomal Location) Comments Hyperlysinemia (238700) Lysine: α -ketoglutarate reductase AASS (7q31.3)* Biochemical profile: Hyperlysinemia Clinical features: Muscle weakness [merckmanuals.com]

  • Barrel Chest

    Chest List of possible causes of Barrel Chest or similar symptoms may include: 2 Achondrogenesis type 1A (Barrel-shaped chest) Achondrogenesis type 2 (Barrel-shaped chest) Achondrogenesis, type IA (Barrel-shaped chest) Achondrogenesis, type II ... .. [familydiagnosis.com]

    Symptoms INHERITANCE: Autosomal recessive RESPIRATORY: [Lung]; Bronchiectasis due to chronic upper respiratory tract infections CHEST: [External features]; Barrel chest SKELETAL: [Hands]; Clubbed fingers SKIN, NAILS, HAIR: [Skin]; Neonatal collodion skin [findzebra.com]

  • Barrel Chest

    Chest List of possible causes of Barrel Chest or similar symptoms may include: 2 Achondrogenesis type 1A (Barrel-shaped chest) Achondrogenesis type 2 (Barrel-shaped chest) Achondrogenesis, type IA (Barrel-shaped chest) Achondrogenesis, type II ... .. [familydiagnosis.com]

    Symptoms INHERITANCE: Autosomal recessive RESPIRATORY: [Lung]; Bronchiectasis due to chronic upper respiratory tract infections CHEST: [External features]; Barrel chest SKELETAL: [Hands]; Clubbed fingers SKIN, NAILS, HAIR: [Skin]; Neonatal collodion skin [findzebra.com]

  • Clubbed Finger

    Symptoms INHERITANCE: Autosomal recessive RESPIRATORY: [Lung]; Bronchiectasis due to chronic upper respiratory tract infections CHEST: [External features]; Barrel chest SKELETAL: [Hands]; Clubbed fingers SKIN, NAILS, HAIR: [Skin]; Neonatal collodion skin [findzebra.com]

  • Loss of Appetite

    In infants with acidosis, the initial symptoms include poor feeding, vomiting, loss of appetite, weak muscle tone (hypotonia), and lack of energy (lethargy). [t3db.ca]

  • Heart Disease

    Disease KYP001 Kyrle Disease KYR001 [malacards.org]

    Many childhood chronic diseases (eg, inflammatory bowel disease, cystic fibrosis, celiac disease, cancer, congenital heart disease, renal failure, hepatic diseases) are associated with increased nutritional requirements and metabolic demands or with decreased [studyres.com]

  • Seizure

    Recurrent seizures are usually referred to as EPILEPSY or "seizure disorder." [ncbi.nlm.nih.gov]

    myoclonus, apnea, death In infantile and episodic forms, seizures, intellectual disability, episodic delirium, chorea, vertical gaze palsy In late-onset form, progressive spastic diplegia, optic atrophy, but no cognitive impairment or seizures Treatment [merckmanuals.com]

    Alpha ketoadipic aciduria Enzyme: alpha ketoadipic dehydrogenase -lysine/tryptophan build up Symptom: seizures, motor development issues MNT - decrease lysine /tryptophan 2. [quizlet.com]

    Symptoms INHERITANCE: Autosomal recessive HEAD AND NECK: [Eyes]; Esotropia; Telecanthus; Hypertelorism NEUROLOGIC: [Central nervous system]; Pachygyria, bilateral frontotemporal; Mental retardation, moderate ; Seizure, febrile (2/3 children); [Peripheral [findzebra.com]

  • Peripheral Neuropathy

    Entries on cerebellar diseases, peripheral neuropathies, various dementias, diagnostic tests (both clinical and laboratory), forms of cerebral edema, dissociative signs and syndromes - all these and many more have been added, expanded, updated or clarified [books.google.ro]

    neuropathy, myopathy Treatment: No clear treatment; avoidance of drugs that trigger hemolytic crisis in G6PD deficiency Pyroglutamic aciduria (5-oxoprolinuria; 266130, 231900) Glutathione synthetase GSS (20q11.2)* Biochemical profile: Elevated urinary [merckmanuals.com]

  • Cerebellar Sign

    signs, and elevated cerebrospinal fluid protein. [phid.ditad.org]

    signs, and elevated cerebrospinal fluid protein (PMID: 10655159, 16183823, 11083877 ). [hmdb.ca]

  • Cerebellar Disease

    Entries on cerebellar diseases, peripheral neuropathies, various dementias, diagnostic tests (both clinical and laboratory), forms of cerebral edema, dissociative signs and syndromes - all these and many more have been added, expanded, updated or clarified [books.google.ro]

  • Tremor

    In adults, acidosis or acidemia is characterized by headaches, confusion, feeling tired, tremors, sleepiness, and seizures. [t3db.ca]

and saccharopine Clinical features: Intellectual disability, spastic diplegia, short stature, EEG abnormality Treatment: No clear treatment *Gene has been identified, and molecular basis has been elucidated. [merckmanuals.com]

Some babies may also need additional treatments if there are complications. [ Read More ] [icdlist.com]

Striatal damage and neurologic phenotype do not develop in all patients, and there is evidence that early supplementation with L-carnitine, vigorous treatment of intercurrent infections with fluids, glucose and insulin, and (perhaps) dietary restriction [ommbid.mhmedical.com]

261,2010 Survival analysis of spinal muscular atrophy type I Korean Journal of Pediatrics 53/11 :965-970,2010 X-linked Myotubular Myopathy in a Family with Two Infant Siblings: A Case with MTM1 Mutation YONSEI MEDICAL JOURNAL 52/3 :547-550,2011 Acute treatment [medicine.yonsei.ac.kr]

Epidemiology The estimated incidence is at 1 in 12, 000 bir This condition has some clinical overlap with NeuLaxova syndrome 2 but the latter is less severe and is caused by a different mutation. [claparly.gq]

Development and Research, Translational Biomedicine, International Journal of Collaborative Research on Internal Medicine & Public Health, Quality in Primary Care, Ulcers Journal, The Journal of the American Medical Association, American Journal of Epidemiology [digestive-diseases.imedpub.com]

This product is not intended to diagnose, treat, cure, or prevent any disease. ‏ [books.google.com]

[…] phenotype do not develop in all patients, and there is evidence that early supplementation with L-carnitine, vigorous treatment of intercurrent infections with fluids, glucose and insulin, and (perhaps) dietary restriction of lysine and tryptophan can prevent [ommbid.mhmedical.com]

Boland, MD Canadian Paediatric Society William Dietz, MD, PhD Centers for Disease Control and Prevention Van S. [studyres.com]

Massachusetts General Hospital) Differential localization of never V-Atpase interacting proteins in the kidney Tanvee Varma (Wellesley College) Anna Greka, MD, PhD (Brigham and Women’s Hospital) Inhibition of calcium-mediated podocyte injury as a strategy to prevent [hskp.bwh.harvard.edu]

It is a slowly progressing disease in which healthy liver tissue is replaced with scar tissue, eventually preventing the liver from functioning properly. [digestive-diseases.imedpub.com]