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]

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]

References: Barshop BA, Nyhan WL, Naviaux RK, McGowan KA, Friedlander M, Haas RH: Kearns-Sayre syndrome presenting as 2-oxoadipic aciduria. Mol Genet Metab. 2000 Jan;69(1):64-8. [ecmdb.ca]

• 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]

• Weakness

  […] and hypotonia; exercise-induced weakness or cramping; after exercise, decreased purine release and low increase in plasma ammonia (relative to lactate); Treatment : Ribose or xylitol Adenylate kinase deficiency OMIN: 103000, 612631 Synonyms: AK-deficiency [extern.synlab.com]

  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]

  […] most patients experience an “acute encephalopathic crisis” following preceding trigger symptoms such as: Irritability Jitteriness Nausea, vomiting, diarrhea Hypotonia (low muscle tone) Poor appetite or difficulty feeding Lack of energy/sleepy Muscle weakness [rarediseases.org]

• 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]

• 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]

• Tremor

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

  […] serum inosine and guanine; high urinary inosine, 2'-deoxyinosine, and 2'-deodyguanosine; Clinical features : Growth failure, cellular immunodeficiency, recurrent infections, hepatosplenomegaly, cerebral vasculitis, spastic diplegia, tetraparesis, ataxia, tremors [extern.synlab.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]

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]

[…] nucleoside triphosphate pyrophospho-hydrolase Prevalence: unknown, autosomal recessive disorder; Laboratory profile : Ca pyrophosphate dihydrate crystals in joints; Clinical features : Recurrent episodes of monoarticular or multiarticular arthritis, Treatment [extern.synlab.com]

Treatment consists of a low lysine diet and oral carnitine supplementation as well as intermittent emergency treatment during episodes that are likely to induce catabolism. [rarediseases.org]

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]

Clinical onset and prognosis of Asian children with organic acidemias, as detected by analysis of urinary organic acids using GC/MS, instead of mass screening. Brain Dev. 2005;27:39–45. doi: 10.1016/j.braindev.2004.04.004. [ncbi.nlm.nih.gov]

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]

For 80-90% of people with GA1, motor symptom development is preventable, but this requires early diagnosis by newborn screening and treatment from birth on. [rarediseases.org]

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]