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]

The Physician’s Guide documents the features of more than five hundred conditions, grouped according to type of disorder, organ system affected (e.g. liver, kidney, etc) or phenotype (e.g. neurological, hepatic, etc). [books.google.com]

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]

In most urea cycle disorders, the hyper-ammonemic episodes are marked by loss of appetite, cyclical vomiting, migrainelike episodes, ataxia, lethargy or hyperactivity, and behavioral abnormalities. [obgynkey.com]

[…] 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]

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]

Chlorpropamide, Cisplatin, Clobazam, Cyclophosphamide, Cytarabine, Dacarbazine, Dactinomycin, Dexrazoxane, Diethylpropion, Diphtheria, Diuretics, Docetaxel, Doxorubicin hydrochloride, Drug-induced granulocytopenias, Epirubicin hydrochloride, Ethosuximide, Exanthema [wikidoc.org]

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]

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. [dictionary.sensagent.com]

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 appetence, growth retardation, enlarged liver and spleen, distinguished pathology and osteopenia,[3] delayed age and spontaneous macromolecule aversion. alimentation of macromolecule might cause convulsions and [humandiseaseinsight.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]

(NCI04) Most are marked by mental retardation with occasional diverse symptoms such as absence of secondary sex characteristics, undescended testes, abnormal facial structure, anemia, obesity, enlarged liver and spleen, and eye muscle imbalance. [aminolover.com]

liver) vomiting liver cirrhosis mental retardation attacks of stupor and asterixis skeletal fragility osteopenia intermittent macrophagic activation syndrome (hemophagocytic lymphohistiocytosis) micronodular cirrhosis of the liver ( 8163273 ) extensive [humpath.com]

Our patient presented after weaning with symptoms such as vomiting, diarrhea, poor feeding, failure to thrive, enlargement of the liver and spleen. Raised levels of lysine and arginine in urine are diagnostic of LPI as was seen in our patient. [mjdrdypu.org]

After infancy, they reject high-protein foods, grow poorly, and have enlarged liver and spleen, muscle hypotonia, and sparse hair. Osteoporosis is prominent, and fractures are not uncommon; bone age is delayed. [ommbid.mhmedical.com]