Leading experts from Latin America, Africa, Near and Middle East, Indian Subcontinent, Far East, Oceania and Australia present their expert insights into specific conditions, as well as progress and challenges in the development of the specialty. [books.google.com]

ORPHA:1032 Synonym(s): - Prevalence: Inheritance: - Age of onset: - ICD-10: E72.0 OMIM: 222690 UMLS: C2673736 MeSH: - GARD: - MedDRA: - The documents contained in this web site are presented for information purposes only. [orpha.net]

Rarely do children present with symptoms of dryness. [slideplayer.com]

• Asymptomatic

  Heterozygous individuals are asymptomatic but homozygotes display intellectual deficit. To date, 25 heterozygotes and one homozygote have been reported. [orpha.net]

  Conversely, occasional asymptomatic adults have been found to harbor the same genetic defect that is causing symptoms in a family relative. [obgynkey.com]

  The signs and symptoms of Dibasic Aminoaciduria Type 1 may vary in type and severity among affected individuals, with some being asymptomatic. [dovemed.com]

  Differing mutations may be associated with different phenotypic expression. [ 14 ] Presentation There is a wide clinical spectrum but most patients are asymptomatic. [ 15 ] Symptoms are often intermittent with exacerbations provoked by: Change of season [patient.info]

  For asymptomatic infants, both urine and blood should be screened. Phenylketonuria H yperphenylalaninem ia is clinically and biochemically heterogeneous. [docplayer.net]

• Poor Growth

  Lysine deficiency may cause many of the features of the disease that are not corrected by prevention of hyperammonemia, including enlargement of the liver and spleen, poor growth and delayed bone age, and osteoporosis. [ommbid.mhmedical.com]

  Failure to thrive and poor appetite are common with poor growth. Stones do not form. Occasionally, intermittent hyperammonaemic encephalopathy occurs. [patient.info]

• Asterixis

  […] cirrhosis anemia thrombocytopenia osteoporosis protein malnutrition protein intolerance failure to thrive retarded physical development diarrhea malabsorption hepatomegaly (enlarged liver) vomiting liver cirrhosis mental retardation attacks of stupor and asterixis [humpath.com]

• Hypertension

  lupus, diabetes, HIV, and hypertension) [books.google.com]

  systemic Hypertensive encephalopathy see Malignant hypertension Hypertensive pulmonary vascular disease see Pulmonary hypertension Hyperthermia see Pyrexia Hyperthyroid see Hyperthyroidism Hyperthyroidism Hypertonia see Spastic ataxia Hypertrichosis [diseasesdatabase.com]

• Hydrops Fetalis

  Stay at the forefront of your field thanks to new and completely revised chapters covering topics such as: Principles and Practice l Immune and Non-immune Hydrops Fetalis l Amniotic Fluid Volume l Enhancing Safe Prescribing in the Neonatal Intensive Care [books.google.com]

  fetalis Hydrops-ectopic calcification-moth-eaten skeletal dysplasia see Greenberg dysplasia Hydroquinone Hydrorachis see Syringomyelia Hydrorhachis see Syringomyelia Hydrothorax see Pleural effusion Hydroureter see Megaureter Hydroxocobalamin see Vitamin [diseaselist.blogspot.com]

  fetalis Hydrops-ectopic calcification-moth-eaten skeletal dysplasia see Greenberg dysplasia Hydroquinone Hydrorachis see Syringomyelia Hydrorhachis see Syringomyelia Hydrotalcite Hydrothorax see Pleural effusion Hydroureter see Megaureter Hydroxocobalamin [diseasesdatabase.com]

• Delayed Bone Age

  The patients show failure to thrive, poor appetite, growth retardation, enlarged liver and spleen, prominent osteoporosis, delayed bone age and spontaneous protein aversion. Forced feeding of protein may lead to convulsions and coma. [the-medical-dictionary.com]

  The patients show failure to thrive, poor appetite, growth retardation, enlarged liver and spleen, prominent osteoporosis and osteopenia, [2] delayed bone age and spontaneous protein aversion. [en.wikipedia.org]

  The patients show failure to thrive, poor appetite, growth retardation, enlarged liver and spleen, prominent osteoporosis and osteopenia, [ 3 ] delayed bone age and spontaneous protein aversion. [en.academic.ru]

Make informed clinical choices for each patient, from diagnosis and treatment selection through post-treatment strategies and management of complications, with new evidence-based criteria throughout. [books.google.com]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

Treatment [ edit ] Treatment of LPI consists of protein-restricted diet and supplementation with oral citrulline. [en.wikipedia.org]

(Outcomes/Resolutions) The prognosis of Dibasic Aminoaciduria Type 1 is dependent upon the severity of the signs and symptoms and associated complications, if any Individuals with mild conditions have better prognosis than those with severe symptoms and [dovemed.com]

Treatment and prognosis Treatment of LPI consists of protein-restricted diet and supplementation with oral citrulline. [the-medical-dictionary.com]

Prognosis [ edit ] Under proper dietary control and supplementation, the majority of the LPI patients are able to have a nearly normal life. [en.wikipedia.org]

Etiology In LPI, urinary excretion of cationic amino acids (ornithine, arginine and lysine) is increased and these amino acids are poorly absorbed from the intestine. [the-medical-dictionary.com]

[…] leukopenia chronic hyperammonemia while cationic aminoaciduria (lysine, arginine and ornithine) during L-citrulline supplementation bone marrow examination: red cell and granulocytes phagocytosis by histiocytes and granulocytes precursors ( 8949349 ) Etiology [humpath.com]

(Etiology) The gene mutation(s) that cause Dibasic Aminoaciduria Type 1 is currently unknown. [dovemed.com]

Finally, there is a rare and severe condition termed transient hyperammonemia of the neonate that is found predominantly in premature infants, the etiology of which remains obscure. [obgynkey.com]

The infants may show enlarged parotids as well as hepatosplenomegaly and mental retardation. 43 Epidemiology in Children Our youngest juvenile SS was 4 years old. but increasingly prevalent after age 10. [slideplayer.com]

More than 2,000 disease genes have been identified in the last 20 years, providing important new insight into the pathophysiology of diseases in every field of medicine. [books.google.com]

Clinical descriptions suggest genetic and pathophysiological heterogeneity. The intestinal defect is not well understood at present. [gut.bmj.com]

Molecular and Systemic Pathophysiology Two different branched chain amino acid transferases, BCT1 and BCT2, are known to catalyze the transamination of branched chain amino acids (leucine, isoleucine and valine). [link.springer.com]

How to use an article about therapy or prevention. B. What were the results and will they help me in caring for my patients? Evidence-Based Medicine Working Group. JAMA 1994;271:59-63. 79. [books.google.com]

How can Dibasic Aminoaciduria Type 1 be Prevented? Dibasic Aminoaciduria Type 1 may not be preventable, since it is a genetic disorder. [dovemed.com]

Type 1 diabetes can’t be prevented. [healthline.com]