Abstract The metabolism of the peripheral leucocyte has been studied in a child presenting with mental retardation and hypervalinemia. A defect in the transamination of valine was demonstrated. [pediatrics.aappublications.org]

Clinical symptoms of the patient… The metabolism of the peripheral leucocyte has been studied in a child presenting with mental retardation and hypervalinemia. [semanticscholar.org]

[edit] Presenting in infancy, symptoms include lack of appetite, vomiting, dehydration, hypotonia and failure to thrive.[5] Genetics[edit] Hypervalinemia has an autosomal recessive pattern of inheritance. [en.wikipedia.org]

[…] in the first week of life with ketoacidosis, hypoglycemia, emesis, neonatal seizures, and hypertonia; the intermediate and intermittent forms present in childhood or later with acute episodes of ataxia and vomiting Applies To Disturbances of metabolism [icd9data.com]

Presenting in infancy, symptoms include lack of appetite, vomiting, dehydration, hypotonia and failure to thrive. [wikidoc.org]

• Developmental Delay

  Low muscle tone (hypotonia), excessive drowsiness, hyperactivity, and developmental delay have also been reported. [malacards.org]

  […] burnt sugar) 3-methylcrotonyl CoA carboxylase deficiency (Acute metabolic acidosis, delayed development) Ornithine transcarbamylase deficiency (Irritatable behaviour, developmental delay) Phenylketonuria (PKU) (Developmental delay and behaviour problems [genetics-tests.com]

• Fatigue

  Syndrome Decision fatigue fibromyalgia Inso... [findzebra.com]

  The disorder is characterized by bruising, fatigue, anemia, low blood platelet count and enlargement of the liver and spleen, and is caused by a hereditary deficiency of the enzyme glucocerebrosidase (also known as … Menkes Disease July 9, 2018 by Peter [checkrare.com]

  Extreme amounts of valine supplements have been linked to nausea, vomiting, diarrhea, stomach bloating, fatigue and loss of coordination. [biostarks.com]

  Some common side effects are fatigue, nausea, vomiting, pain, and hair loss. There are ways to prevent or control some side effects. Talk with your health care provider about how to manage them. [mail.medical-dictionary.com]

  Syndrome Chronic Fatigue Syndrome/Myalgic Encephalomyelitis Chronic Inflammatory Demyelinating Polyneuropathy Chronic Intestinal Pseudo-obstruction Chronic Lymphocytic Leukemia Chronic Myelogenous Leukemia Churg Strauss Syndrome Cicatricial Alopecia [arrayit.com]

• Short Stature

  Other features include short stature, hypergonadotropic hypogonadism, and skeletal deformities due to muscle weakness. [mendelian.co]

  stature) Histidinemia (Mental retardation, Renal defect) Serum carnosinase deficiency (Decreased muscle tone, delayed development) Endogenous sucrosurla (Mental retardation) Hydroxylysinuria (Mental retardation, behavioral problems and hyperactivity) [genetics-tests.com]

  stature-paraplegia syndrome Volcke-Soekarman syndrome - See Macrocephaly-short stature-paraplegia syndrome Volubilis syndrome - See Morning glory syndrome Von Bogaert-Bertrand disease - See Canavan disease Von Economo’s disease - See Encephalitis lethargica [herenciageneticayenfermedad.blogspot.com]

  Bowel Syndrome Short Chain Acyl CoA Dehydrogenase Deficiency (SCAD) SHORT Syndrome Shwachman Syndrome Sialadenitis Sialidosis Sickle Cell Disease Simian B Virus Infection Simple Pulmonary Eosinophilia Simpson Dysmorphia Syndrome Singleton Merten syndrome [arrayit.com]

• Anorexia

  Inherited metabolic disorders are genetic conditions that result in metabolism problems Metabolic changes can give incredible assorted qualities of signs and manifestations like episodic illness-anorexia, vomiting, and gastric metabolic disorder, lethargy [omicsonline.org]

  […] movements Increased body weight Megaloblastic anemia Proximal amyotrophy Drowsiness Macrocytic anemia Basal ganglia calcification Abnormality of the immune system Eosinophilia Cheilitis Recurrent upper respiratory tract infections Aspiration Leukopenia Anorexia [mendelian.co]

  […] infection caused by an alphavirus of the Togaviridae family transmitted by an infected mosquito, that more frequently affects children and that is characterized by the presence of mild flulike symptoms (fever, chills, headache, nausea, vomiting, and anorexia [findzebra.com]

  Megaloblastic Anemia of Chronic Disease Anemia, Pernicious Anemias, Sideroblastic Anencephaly Angelman Syndrome Angioedema, Hereditary Angioimmunoblastic T-Cell Lymphoma Aniridia Aniridia Cerebellar Ataxia Mental Deficiency Ankylosing Spondylitis Anodontia Anorexia [arrayit.com]

• Weight Gain

  Slowed development Brain damage with increasing age Abnormalities of the immune system Physical impairment Mental retardation Chronic skin diseases Slow weight gain Seizures Speech disabilities Pigmentation of the skin Poor food intake Lack of energy [genetics-tests.com]

  The complications of Valinemia may include: Inadequate weight gain Delay in reaching developmental milestones Coma Failure to thrive Complications may occur with or without treatment, and in some cases, due to treatment also. [dovemed.com]

  Other, non specific, clinical signs include hypnagogic hallucinations, sleep paralysis, insomnia, hypnopompic hallucinations and weight gain. [findzebra.com]

• Vomiting

  The symptoms in newborn babies may include the following: Comatose Failure to thrive Frequent vomiting Metabolic acidosis Protein intolerance Furthermore, the condition may become life-threatening if left untreated. [healthcautions.com]

  Infants with valinemia generaly suffer with a lack of appetite, frequent vomiting, hyperactivity, muscular hypotonia, and fail to thrive. [xpertdox.com]

  Infants with Valinemia reportedly experience lack of appetite, vomiting, and failure to thrive. In some cases, the condition may be life-threatening. [malacards.org]

  Diagnosis Among the symptoms of Valinemia are vomiting, hypotonia, growth retardation, failure to thrive, and poor feeding. Treatment Symptoms The disorder is caused by a deficiency of the enzyme valine transminase. [healthinformationview.com]

  Infants with valinemia reportedly experience lack of appetite, vomiting, and failure to thrive. In some cases, the condition may be life-threatening. [rareguru.com]

• Failure to Thrive

  Infants with valinemia reportedly experience lack of appetite, vomiting, and failure to thrive. In some cases, the condition may be life-threatening. [malacards.org]

  Diagnosis Among the symptoms of Valinemia are vomiting, hypotonia, growth retardation, failure to thrive, and poor feeding. Treatment Symptoms The disorder is caused by a deficiency of the enzyme valine transminase. [healthinformationview.com]

  The symptoms in newborn babies may include the following: Comatose Failure to thrive Frequent vomiting Metabolic acidosis Protein intolerance Furthermore, the condition may become life-threatening if left untreated. [healthcautions.com]

• Diarrhea

  Here is a list of other symptoms of more serious cases of Valinemia: Drowsiness Poor appetite Increase in the valine levels in urine Rapid involuntary movements of the eyes Muscular hypotonia Hyperkinesia Mental retardation Failure to thrive Diarrhea [healthcautions.com]

  Extreme amounts of valine supplements have been linked to nausea, vomiting, diarrhea, stomach bloating, fatigue and loss of coordination. [biostarks.com]

  Infants exhibit low blood and cerebrospinal fluid folate levels with megaloblastic anemia, diarrhea, immune deficiency, infections, and neurologic deficits. Treatment with folate supplementation results in resolution of the signs and symptoms. [mendelian.co]

  GALE) (Cataracts, delayed growth and development, intellectual disability, liver disease, and kidney problem) Isobutyryl-CoA dehydrogenase deficiency (IBD) (Anemia, weak muscle tone, developmental delay) Malonic acidemia (MAL) (Hypoglycemia, vomiting, diarrhea [genetics-tests.com]

  […] is an acute arboviral infection caused by an alphavirus of the Togaviridae family transmitted by an infected mosquito, that is characterized by the onset of flulike symptoms including fever, chills, weakness, headache, vomiting, abdominal pain with diarrhea [findzebra.com]

• Suggestibility

  Abstract Idiopathic hypervalinemia is suggested for a case of probably new inborn error of metabolism, aged 2 months, who is characterized clinically by vomiting. failure to thrive and drowsiness and biochemically by hypervalinemia without increase in [doi.org]

  Want to suggest a symptom? Please send suggestions to RareGuru! [rareguru.com]

  Transamination of valine is demonstrable in placenta, suggesting the possibility that the diagnosis may be made before birth. Received September 23, 1966. Accepted November 29, 1966. [pediatrics.aappublications.org]

  This suggests that boy was suffering from hypervalinemia. 10. [slideshare.net]

• Phenylketonuria

  […] http://snomed.info/sct © : 7573000 Classical phenylketonuria (disorder) LA12520-5 26 Pyroglutamic acidemia http://snomed.info/sct © : 39112005 Glutathione synthase deficiency with 5-oxoprolinuria (disorder) LA12469-5 27 Pyruvate carboxylase deficiency [r.details.loinc.org]

  Copyright http://snomed.info/sct ID:7573000 Classical phenylketonuria (disorder) LA12520-5 Pyroglutamic acidemia Copyright http://snomed.info/sct ID:39112005 Glutathione synthase deficiency with 5-oxoprolinuria (disorder) LA12469-5 Pyruvate carboxylase [loinc.org]

  N-acetylglutamate / Carbamyl phosphate synthetase deficiency, Neonatal Adrenoleukodystrophy, Neuroblastoma, NICCD, Ornithine transcarbamylase deficiency, Orotic aciduria, Partial deficiency of hypoxanthine-guanine phosphoribosyltransferase deficiency, Phenylketonuria [geno.ma]

  See Mild phenylketonuria Variant PKU - See Mild phenylketonuria Varicella Embryopathy - See Congenital varicella syndrome Varicella virus antenatal infection - See Congenital varicella syndrome Variegate porphyria Variola - See Smallpox Varioliform [herenciageneticayenfermedad.blogspot.com]

  Phenylketonuria (phenylalanine hydroxylase deficiency) (PKU) ✓ ✓ ✓ 21. Hyperphenylalaninemia (variant, benign) (H-PHE) ✓ ✓ ✓ 22. 2-methyl 3-hydroxy butyric aciduria (2M3HBA) ✓ ✓ ✓ 23. Tyrosinemia type I (hepatorenal tyrosinemia) ✓ ✓ ✓ 24. [metascreen.com.hk]

• Hematuria

  […] caused by an alphavirus of the Togaviridae family transmitted by an infected mosquito, that is characterized by the onset of flulike symptoms including fever, chills, weakness, headache, vomiting, abdominal pain with diarrhea, myalgia, leucocytosis, and hematuria [findzebra.com]

  Hailey-Hailey Disease Haim-Munk Syndrome Hajdu Cheney Syndrome Hallermann Streiff Syndrome Hand-Foot-Mouth Syndrome Hanhart Syndrome Hantavirus Pulmonary Syndrome Hartnup Disease Hay-Wells Syndrome Headache, Cluster Heart Block, Congenital Heavy Metal Poisoning Hematuria [arrayit.com]

• Hyperactivity

  Additional features may include abnormally low muscle tone ( muscular hypotonia ), excessive drowsiness, and hyperactivity. [xpertdox.com]

  Low muscle tone (hypotonia), excessive drowsiness, hyperactivity, and developmental delay have also been reported. [rareguru.com]

  Low muscle tone ( hypotonia ), excessive drowsiness, hyperactivity, and developmental delay have also been reported. [rarediseases.info.nih.gov]

  Low muscle tone(hypotonia)&hyperactivity... https://bit.ly/2sP6hDW 0 1 3 Download Next Page [twipu.com]

  Low muscle tone (hypotonia) and hyperactivity also occur. The breakdown of valine involves at least seven stages and a deficiency of the appropriate enzyme at any of these stages leads to a disorder of varying severity and rarity. [healthetreatment.com]

• Encephalopathy

  Learn more Other less relevant matches: Medium match 3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME; MEGDEL MEGDEL is an autosomal recessive disorder characterized by childhood onset of delayed psychomotor development [mendelian.co]

  Co-infection with coxsackievirus A5 and norovirus GII.4 could have been the trigger of the first episode of severe acute encephalopathy in a six-year-old child with the intermittent form of maple syrup urine disease (MSUD). 06/2017 7. [xpertdox.com]

  Ethylmalonic encephalopathy ✓ 6. Dicarboxylic aciduria ✓ Peroxisomal Diseases 5 4 - 1. Zellweger syndrome ✓ ✓ 2. Neonatal adrenoleukodystrophy ✓ ✓ 3. Infantile refsum disease (IRD) ✓ ✓ 4. Zellweger-like syndrome (ZLS) ✓ 5. [metascreen.com.hk]

  […] vitamin B12-responsive type III (disorder) LA12480-2 22 Methylene tetrahydrofolate reductase deficiency http://snomed.info/sct © : 41797007 5,10-Methylenetetrahydrofolate reductase deficiency (disorder) LA12514-8 23 Nonketotic hyperglycinemia (glycine encephalopathy [r.details.loinc.org]

  […] creatine deficiency syndrome 3 (disorder) LA30114-5 Methylene tetrahydrofolate reductase deficiency Copyright http://snomed.info/sct ID:41797007 5,10-Methylenetetrahydrofolate reductase deficiency (disorder) LA12514-8 Nonketotic hyperglycinemia (glycine encephalopathy [loinc.org]

• Nystagmus

  Clinical symptoms of the patient consist of vomiting, nystagmus, hyperkinesia, muscular hypotony, failure to thrive, and mental retardation. 1 Routine laboratory examinations revealed no abnormal findings. [doi.org]

  The patient started to vomit shortly after birth and showed horizontal nystagmus, hyperkinesia of the extremities, and developmental delay. Her plasma level of valine was ten times higher than normal without abnormality of other aminoacids. [link.springer.com]

  […] vomiting • Abnormally low muscle tone (hypotonia) • Hyperkinesia [Muscle spasms] • Excessive drowsiness sleepy • Delayed mental and physical development at the age of 24 months • The patient started to vomit shortly after birth and showed horizontal nystagmus [slideshare.net]

  […] dominant cerebellar ataxia, type ii, adca, type ii;ataxia with pigmentary retinopathy; cerebellar syndrome-pigmentary maculopathy syndrome; sca7 Related symptoms: Autosomal dominant inheritance Global developmental delay Generalized hypotonia Ataxia Nystagmus [mendelian.co]

  […] dextrocardia - See Van Allen Myhre syndrome Vesicoenteric fistula - See Enterovesical fistula Vessel’s syndrome - See Proximal symphalangism Vestibular schwannoma - See Acoustic neuroma Vestibulocerebellar disorder with predominant ocular signs - See Nystagmus [herenciageneticayenfermedad.blogspot.com]

• Somnolence

  First-line treatment of diurnal somnolence is modafinil. Sodium oxybate is efficient for sleepiness, cataplexy and bad quality of night ... [findzebra.com]

Your treatment plan will depend on the cancer type, the chemotherapy drugs used, the treatment goal, and how your body responds. Chemotherapy may be given alone or with other treatments. You may get treatment every day, every week, or every month. [mail.medical-dictionary.com]

This is just one of the few treatments for Valinemia. Furthermore, there are some therapy treatments for Valinemia which may be a great help. [healthcautions.com]

There are two main types of clinical studies: Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments. [rarediseases.info.nih.gov]

Treatment Please input treatment information here. You can also add sub-section(s) at will. Labs working on this disease Please input related labs here. References Please input treatment information here. [pediascape.org]

Prognosis - Valinemia Not supplied. Treatment - Valinemia A diet low in valine introduced during early infancy usually improves symptoms of valinemia, and lowers the valine concentrations in the blood to normal levels. [checkorphan.org]

(Outcomes/Resolutions) The prognosis of Valinemia is dependent upon the severity of the signs and symptoms and associated complications, if any A low valine diet may help reduce severe symptoms and avoid complications Additional and Relevant Useful Information [dovemed.com]

Post-operative prognosis is generally good. [findzebra.com]

Synonyms Hypervalinemia~Valine Transaminase Deficiency Etiology Please input defination information here. Diagnosis Please input defination information here. Symptoms Please input defination information here. [pediascape.org]

Metabolic diseases are as numerous as they are different in both their etiology and clinical presentation. Reports by the WHO claim that there are over 1300 metabolic diseases recorded in the literature. [pharmalegacy.com]

(Etiology) Valinemia is caused by a deficiency of the enzyme valine transaminase, which is needed for the breakdown (metabolism) of valine in the body It is inherited in an autosomal recessive manner, although the gene responsible for the condition is [dovemed.com]

The etiology is unknown. [findzebra.com]

Epidemiology Hypersomnia affects approximately 5% of the general population, "with a higher prevalence for men due to the sleep apnea syndromes." [findzebra.com]

Molecular and Systemic Pathophysiology A defect in valine transamination was demonstrated in peripheral leukocytes from the patient [4]. [link.springer.com]

The TJEM also covers the fields of disaster-prevention science, including earthquake archeology. Submitted manuscripts will be screened for plagiarism with Similarity Check ( https://www.crossref.org/services/similarity-check/ ). [doi.org]

[…] timely treatment or prevention. [genetics-tests.com]

Prevention - Valinemia Not supplied. Diagnosis - Valinemia Not supplied. Prognosis - Valinemia Not supplied. [checkorphan.org]

How can Valinemia be Prevented? Valinemia may not be preventable, since it is a genetic disorder. [dovemed.com]

The following tools may help you gather the information you need: Milestone Tracker App [CDC] Tracks a child's milestones from age 2 months to 5 years with Center for Disease Control and Prevention's (CDC) easy-to-use illustrated checklists. [rarediseases.info.nih.gov]