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what is 'homocystinuria - multisystem metabolic disease due to abnormal methionine metabolism '?
Definition for homocystinuria
Homocystinuria, also known as Cystathionine beta synthase deficiency, is an inherited disorder of the metabolism of the amino acid methionine.
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Homocystinuria, also known as Cystathionine beta synthase deficiency, is an inherited disorder of the metabolism of the amino acid methionine. It is an inherited autosomal recessive trait, which means a child needs to inherit the defective gene from both parents to be affected. This defect leads to a multisystemic disorder of the connective tissue, muscles, CNS, and cardiovascular system. Homocystinuria represents a group of hereditary metabolic disorders characterized by an accumulation of homocysteine in the serum and an increased excretion of homocysteine in the urine. Infants appear to be normal and early symptoms, if any are present, are vague.
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do i have 'homocystinuria'?
In addition the following diagnostic tests might be need to help verify the diagnosis:
diagnostic test search results for 'homocystinuria'
1 - 5 of
45
diagnostic tests
24 hour urinary cystine
homocystinuria and 24 hour urinary cystine
Biopsy liver
homocystinuria and Biopsy liver
Plasma amino acids
homocystinuria and Plasma amino acids
Serum Homocysteine
homocystinuria and Serum Homocysteine
Serum methionine
homocystinuria and Serum methionine
cystathionine level
homocystinuria and cystathionine level
urinary cyanide nitroprusside reaction
homocystinuria and urinary cyanide nitroprusside reaction
urine amino acids
homocystinuria and urine amino acids
urine homocysteine
homocystinuria and urine homocysteine
Blood, Platelet Count
Platelet Count
homocystinuria and Blood, Platelet Count
Complete Blood Count
homocystinuria and Complete Blood Count
Duplex sonography
homocystinuria and Duplex sonography
EEG - Electroencephalogram
homocystinuria and EEG - Electroencephalogram
HPLC (High performance liquid chromatography) with fluorescence detection
homocystinuria and HPLC (High performance liquid chromatography) with fluorescence detection
High-voltage electrophoresis for homocystinuria
homocystinuria and High-voltage electrophoresis for homocystinuria
Brain MRI
homocystinuria and Brain MRI
Activated Protein C Resistance test
clotting assay to define a cause of increased clotting
homocystinuria and Activated Protein C Resistance test
Antiphospholipid antibodies
anribodies seen in inappropriate clot formation
homocystinuria and Antiphospholipid antibodies
Antithrombin III
clot thinning factor in body
homocystinuria and Antithrombin III
Contrast Venography
homocystinuria and Contrast Venography
Factor V Leiden mutation
homocystinuria and Factor V Leiden mutation
Heparin-induced antibody testing
homocystinuria and Heparin-induced antibody testing
Impedance plethysmography
homocystinuria and Impedance plethysmography
Methylenetetrahydrofolate reductase mutation
homocystinuria and Methylenetetrahydrofolate reductase mutation
Protein C (antigen and activity)
homocystinuria and Protein C (antigen and activity)
Protein S
homocystinuria and Protein S
Prothrombin 20210A mutation
homocystinuria and Prothrombin 20210A mutation
activity and antigenicity of plasminogen
homocystinuria and activity and antigenicity of plasminogen
cystathionine synthase in cultured fibroblasts
homocystinuria and cystathionine synthase in cultured fibroblasts
liver cystathionine synthase
homocystinuria and liver cystathionine synthase
Activated partial thromboplastin time
homocystinuria and Activated partial thromboplastin time
D dimers
homocystinuria and D dimers
Prothrombin Time (PT)
homocystinuria and Prothrombin Time (PT)
platelet morphology
homocystinuria and platelet morphology
Lupus anticoagulant
homocystinuria and Lupus anticoagulant
CT venography
homocystinuria and CT venography
Magnetic Resonance Imaging (MRI)
homocystinuria and Magnetic Resonance Imaging (MRI)
Urinalysis
Examination of urine to detect disease
homocystinuria and Urinalysis
radioisotope venography
homocystinuria and radioisotope venography
CT scan
homocystinuria and CT scan
Comprehensive eye exam
homocystinuria and Comprehensive eye exam
cultured skin fibroblasts for biochemical study
homocystinuria and cultured skin fibroblasts for biochemical study
direct enzymatic assay in fibroblasts
homocystinuria and direct enzymatic assay in fibroblasts
plasma homocystine
homocystinuria and plasma homocystine
urine methionine
homocystinuria and urine methionine
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therapeutic procedures for 'homocystinuria'?
Managing or treating a diseases should always be determined by a patients health care provider. Below is a list of associated therapeutic procedures or medications for homocystinuria:
therapeutic procedure search results for 'homocystinuria'
1 - 5 of
6
therapeutic procedures
rankings are computer generated. please consult your health care provider.
eye surgery
homocystinuria and eye surgery
Homocysteine Reduction Formula
homocystinuria and Homocysteine Reduction Formula
methionine-restricted diets
homocystinuria and methionine-restricted diets
Compression hosiery
homocystinuria and Compression hosiery
clot removal and partial interruption of inferior vena cava
homocystinuria and clot removal and partial interruption of inferior vena cava
Inferior Vena Caval Filter
homocystinuria and Inferior Vena Caval Filter
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medications search results for 'homocystinuria'
1 - 5 of
22
medications
rankings are computer generated. please consult your health care provider.
folic acid
homocystinuria and folic acid
Cysteine
homocystinuria and Cysteine
pyridoxine
homocystinuria and pyridoxine
Heparin
homocystinuria and Heparin
Warfarin
homocystinuria and Warfarin
Cyanocobalamin
homocystinuria and Cyanocobalamin
tPA
homocystinuria and tPA
Urokinase
homocystinuria and Urokinase
Enoxaparin
homocystinuria and Enoxaparin
Streptokinase
homocystinuria and Streptokinase
Alteplase
homocystinuria and Alteplase
Dalteparin
homocystinuria and Dalteparin
Tinzaparin
homocystinuria and Tinzaparin
Fondaparinux sodium
homocystinuria and Fondaparinux sodium
rPA
homocystinuria and rPA
Tenecteplase
homocystinuria and Tenecteplase
Vitamin B-12
homocystinuria and Vitamin B-12
betaine
(a.k.a betaine, Cystadane)
homocystinuria and betaine
cyanocobalamin injection
(a.k.a cyanocobalamin injection, Cyanoject)
homocystinuria and cyanocobalamin injection
cyanocobalamin nasal
(a.k.a cyanocobalamin nasal, Nascobal , CaloMist)
homocystinuria and cyanocobalamin nasal
cyanocobalamin
(a.k.a cyanocobalamin, Cyomin)
homocystinuria and cyanocobalamin
pyridoxine
(a.k.a pyridoxine, Pyridoxine Hydrochloride)
homocystinuria and pyridoxine
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web search results for 'homocystinuria'?
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- homocystinuria
Homocystinuria
Homocystinuria is an inherited disorder that affects the metabolism of the amino ... Homocystinuria has several features in common with Marfan syndrome. ...
http://adam.about.com/encyclopedia/infectiousdiseases/Homocy...
adam.about.com
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summary
Homocystinuria - Wikipedia, the free encyclopedia
Homocystinuria, also known as Cystathionine beta synthase deficiency, is an ... Homocystinuria represents a group of hereditary metabolic disorders ...
http://en.wikipedia.org/wiki/Homocystinuria
en.wikipedia.org
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Homocystinuria - Genetics Home Reference
Mutations in the CBS, MTHFR, MTR, and MTRR genes cause homocystinuria. ... Gene Review: Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency ...
http://ghr.nlm.nih.gov/condition=homocystinuria
ghr.nlm.nih.gov
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summary
Homocystinuria - Yahoo! Health
Important It is possible that the main title of the report Homocystinuria is not the name you expected. Please check the synonyms listing to find the alternate name ...
http://health.yahoo.com/urinary-overview/homocystinuria/healthwise--nord463.html
health.yahoo.com
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summary
Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency ...
Bookshelf " GeneReviews " Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency ... Homocystinuria is inherited in an autosomal recessive manner. ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=homocystinuria
www.ncbi.nlm.nih.gov
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summary
MedlinePlus Medical Encyclopedia: Homocystinuria
Learn about this condition, the causes, symptoms, treatment, prognosis, and complications. ... Homocystinuria is an inherited disorder that affects the ...
http://www.nlm.nih.gov/medlineplus/ency/article/001199.htm
www.nlm.nih.gov
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summary
Homocystinuria
Homocystinuria is an inherited disorder of the of the amino acid methionine. ... For this reason, some states screen for homocystinuria in all newborns. ...
http://adam.about.com/encyclopedia/001199trt.htm?iam=dpile_100
adam.about.com
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Homocystinuria - References - Genetics Home Reference
Are heterocygotes for classical homocystinuria at risk of vitamin B(12) and ... Gene Review: Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency ...
http://ghr.nlm.nih.gov/condition=homocystinuria/show/References
ghr.nlm.nih.gov
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summary
A study of cardiovascular risk in heterozygotes for homocystinuria.
... mild homocyst(e)inemia, such as is present in heterozygotes for homocystinuria ... Less than 5% of homocystinuria heterozygotes are likely to have a fatal or ...
http://www.ncbi.nlm.nih.gov/pubmed/7325153?ordinalpos=2&itoo...
www.ncbi.nlm.nih.gov
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summary
Homocystinuria associated with decreased methylenetetrahydrofolate ...
Homocystinuria associated with decreased methylenetetrahydrofolate reductase activity. ... Homocystinuria/enzymology* Homocystinuria/metabolism. Humans ...
http://www.ncbi.nlm.nih.gov/pubmed/5057914?ordinalpos=1&itoo...
www.ncbi.nlm.nih.gov
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Coexistence of hereditary homocystinuria and factor V Leiden--effect on ...
Of four patients with homocystinuria who did not have factor V Leiden, none had ... Patients with concurrent homocystinuria and factor V Leiden can have an ...
http://www.ncbi.nlm.nih.gov/pubmed/8592550?ordinalpos=7&itoo...
www.ncbi.nlm.nih.gov
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Sulfur Amino Acid Metabolism: Homocystinuria
The increased knowledge of the molecular basis of neurobiology will ultimately lead to an understanding of the coding of experiences that comprise memory and are the ...
http://www.ncbi.nlm.nih.gov/books/bv.fcgi?rid=bnchm.section.3126
www.ncbi.nlm.nih.gov
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summary
Index: HO: Merck Manual Home Edition
Brain, Spinal Cord, and Nerve Disorders. Cancer. Children's Health Issues ... Homocystinuria. Amino Acid Metabolism: Homocystinuria. Homonymous hemianopia ...
http://www.merck.com/mmhe/index/ind_ho.html
www.merck.com
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Homocysteine Glossary of Terms with Definitions on MedicineNet.com
Homocysteine glossary includes a list of Homocysteine related medical definitions and related links on MedicineNet.com ... See the entire definition of Homocystinuria ...
http://www.medicinenet.com/homocysteine/glossary.htm
www.medicinenet.com
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ECTOPIA LENTIS - Pedbase.org
2. Homocystinuria-I. 3. Sulfite Oxidase Deficiency. 4. Weill-Marchesani Syndrome ... 5. Homocystinuria-I. often present by 5 yrs of age ...
http://www.pedbase.org/e/ectopia-lentis
www.pedbase.org
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Do You Know the Types of Osteoporosis?
Did you know there are different types of osteoporosis? ... homocystinuria, a genetic metabolic disorder. hyperparathyroidism. hyperthyroidism ...
http://www.webmd.com/osteoporosis/types-of-osteoporosis
www.webmd.com
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summary
MTHFR - 5,10-methylenetetrahydrofolate reductase (NADPH) - Genetics ...
homocystinuria - caused by mutations in the MTHFR gene ... and methionine lead to the health problems associated with homocystinuria. ...
http://ghr.nlm.nih.gov/gene=mthfr
ghr.nlm.nih.gov
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Amino Acid and Organic Acid Metabolism Disorders: Inherited Disorders ...
Classic homocystinuria: This disorder is caused by an autosomal recessive ... Clinical manifestations are similar to other forms of homocystinuria. ...
http://www.merck.com/mmpe/sec19/ch296/ch296c.html
www.merck.com
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Genomics|Population Research|Health Studies Publications|MTHFR
The mission of the National Office of Public Health Genomics is to integrate advances in human genetics ... expression in homocystinuria. J Inher Metab ...
http://www.cdc.gov/genomics/population/publications/CBSvers2.htm
www.cdc.gov
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Homocystinuria due to cystathionine ? -synthase deficiency
Classical homocystinuria due to cystathionine beta ... Classical homocystinuria is ... classical homocystinuria vary according to the age of diagnosis. ...
http://www.orpha.net/data/patho/GB/uk-CbS.pdf
www.orpha.net
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summary
Stroke Awareness - Heart Disease and Other Cardiovascular Conditions on ...
Information on heart disease and related cardiovascular conditions includes medications, procedures ... homocystinuria, in which there are excessive levels of ...
http://www.medicinenet.com/script/main/art.asp?articlekey=20376
www.medicinenet.com
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summary
MTR - 5-methyltetrahydrofolate-homocysteine methyltransferase ...
homocystinuria - caused by mutations in the MTR gene ... and methionine lead to the health problems associated with homocystinuria. ...
http://ghr.nlm.nih.gov/gene=mtr
ghr.nlm.nih.gov
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summary
Laboratory Quality Assurance Programs: NSQAP: Program Services | CDC
Warning: Your browser's Javascript capabilities are ... Homocystinuria. 139. 96. Tyrosinemia. 155. 105. Maple Syrup Urine Disease (Val) 129. 88. Citrullinemia ...
http://www.cdc.gov/labstandards/nsqap_services.htm
www.cdc.gov
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MedlinePlus Medical Encyclopedia: Pectus carinatum
Pectus carinatum describes a protrusion of the chest over the sternum, often ... Homocystinuria. Marfan's syndrome. Morquio syndrome. Multiple lentigines syndrome ...
http://www.nlm.nih.gov/medlineplus/ency/article/003321.htm
www.nlm.nih.gov
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Index: LE: Merck Manual Home Edition
Brain, Spinal Cord, and Nerve Disorders. Cancer. Children's Health Issues ... dislocation of, in homocystinuria. Amino Acid Metabolism: Homocystinuria ...
http://www.merck.com/mmhe/index/ind_le.html
www.merck.com
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HOMOCYSTINURIA-1 - Pedbase.org
... Pediatric Database - Detailed information of HOMOCYSTINURIA-1. HOMOCYSTINURIA-I ... homocystinuria ... .org. Powered by Database of Pediatrics- HOMOCYSTINURIA-I ...
http://www.pedbase.org/h/homocystinuria-1
www.pedbase.org
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Index: PY: Merck Manual Home Edition
Brain, Spinal Cord, and Nerve Disorders. Cancer. Children's Health Issues. Digestive Disorders ... in homocystinuria. Amino Acid Metabolism: Homocystinuria. Pyrogens ...
http://www.merck.com/mmhe/index/ind_py.html
www.merck.com
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CBS - cystathionine-beta-synthase - Genetics Home Reference
homocystinuria - caused by mutations in the CBS gene ... how excess homocysteine leads to the signs and symptoms of homocystinuria. ...
http://ghr.nlm.nih.gov/gene=cbs
ghr.nlm.nih.gov
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summary
MTRR - 5-methyltetrahydrofolate-homocysteine methyltransferase ...
homocystinuria - caused by mutations in the MTRR gene ... and methionine lead to the health problems associated with homocystinuria. ...
http://ghr.nlm.nih.gov/gene=mtrr
ghr.nlm.nih.gov
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summary
Methylmalonic aciduria (cobalamin deficiency) cblC type, with ...
Human protein-coding gene MMACHC. Represented by 57 ESTs from 37 ... methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria. H. sapiens ...
http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=13024
www.ncbi.nlm.nih.gov
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summary
Arachnodactyly
Arachnodactyly is a physical condition in which the fingers are long, slender, ... Homocystinuria. Marfan's syndrome. Other rare genetic disorders ...
http://adam.about.com/encyclopedia/Arachnodactyly.htm
adam.about.com
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MedlinePlus Medical Encyclopedia: Topics beginning with Hg-Hz
Skip navigation. Other encyclopedia topics: ... Hiatal hernia repair see Anti-reflux ... Homocystinuria. Homogentisic acid oxidase deficiency see Alkaptonuria ...
http://www.nlm.nih.gov/medlineplus/ency/encyclopedia_Hg-Hz.htm
www.nlm.nih.gov
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PMID 683264
... of methylmalonic aciduria, homocystinuria, megaloblastic anemia and neurologic ... Diet, Vegetarian Female Homocystinuria diagnosis Humans Infant Infant ...
http://www.ncbi.nlm.nih.gov/pubmed/683264
www.ncbi.nlm.nih.gov
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Neurologic Diseases - Genetics Home Reference
autosomal dominant partial epilepsy with auditory features ... homocystinuria. Huntington disease. Huntington disease-like syndrome ...
http://ghr.nlm.nih.gov/medlineplusTopic=neurologicdiseases
ghr.nlm.nih.gov
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Index: CL: Merck Manual Home Edition
Brain, Spinal Cord, and Nerve Disorders. Cancer. Children's Health Issues ... in homocystinuria. Amino Acid Metabolism: Homocystinuria. in thrombocytopenia ...
http://www.merck.com/mmhe/index/ind_cl.html
www.merck.com
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PMID 15141041
Homocysteine levels and the risk of osteoporotic fracture. ... Very high plasma homocysteine levels are characteristic of homocystinuria, ...
http://www.ncbi.nlm.nih.gov/pubmed/15141041
www.ncbi.nlm.nih.gov
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PubMed
... homocystinuria, a variety of remethylation disorders, and most recently in ... alone has been shown to prevent vascular events in homocystinuria and may have ...
http://www.ncbi.nlm.nih.gov/pubmed/16545978
www.ncbi.nlm.nih.gov
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Connective Tissue Disorders - Genetics Home Reference
homocystinuria. hypochondrogenesis. Kniest dysplasia. Marfan syndrome. mucopolysaccharidosis type I ... platyspondylic lethal skeletal dysplasia, Torrance type ...
http://ghr.nlm.nih.gov/conditionGroup=connectivetissuedisorders
ghr.nlm.nih.gov
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Redox status and protein binding of plasma homocysteine and other ...
... the blood of patients with homocystinuria may explain the high cardiovascular morbidity. ... homocyst(e)ine species in the pathogenesis of homocystinuria. ...
http://www.ncbi.nlm.nih.gov/pubmed/8231845?ordinalpos=1&itoo...
www.ncbi.nlm.nih.gov
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Orphanet: Homocystinuria due to methylenetetrahydrofolate reductase ...
The portal for rare diseases and orphan drugs ... Homocystinuria due to methylene tetrahydrofolate reductase (MTHFR) deficiency is ...
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=395
www.orpha.net
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Introduction: Inherited Disorders of Metabolism: Merck Manual Professional
Introduction· Amino Acid and Organic Acid Metabolism Disorders· Approach to the ... tyrosinemia, biotinidase deficiency, homocystinuria, maple syrup urine disease, ...
http://www.merck.com/mmpe/sec19/ch296/ch296a.html
www.merck.com
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Homocystinuria Screening in Newborns Misses Many Cases
Current screening tests in newborns for homocystinuria -- a condition that can result in mental retardation and other medical problems -- miss too many cases, ...
http://www.webmd.com/news/19991122/homocystinuria-screening-misses-many-cases
www.webmd.com
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Methylmalonic aciduria (cobalamin deficiency) cblD type, with ...
Human protein-coding gene MMADHC. Represented by 1445 ESTs from 304 ... Methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria (MMADHC) ...
http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&MAXEST=999999&CID=5324
www.ncbi.nlm.nih.gov
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Chromosome 1 - Conditions related to genes on chromosome 1 - Genetics ...
hereditary leiomyomatosis and renal cell cancer. homocystinuria ... 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency. hypercholesterolemia. hyperprolinemia ...
http://ghr.nlm.nih.gov/chromosome=1/show/Conditions
ghr.nlm.nih.gov
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Evaluating Newborn Screening Program Data Systems -- Georgia, 1998
All 50 states and the District of Columbia conduct newborn screening (NBS) ... homocystinuria, hypothyroidism, maple syrup urine disease, congenital adrenal ...
http://www.cdc.gov/mmwr/preview/mmwrhtml/mm4848a1.htm
www.cdc.gov
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236200
http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=236200
www.ncbi.nlm.nih.gov
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Subluxation - Wikipedia, the free encyclopedia
A medical subluxation is an incomplete or partial dislocation of a joint or ... disorders, such as Marfan syndrome, Ehlers-Danlos syndrome and homocystinuria. ...
http://en.wikipedia.org/wiki/Subluxation
en.wikipedia.org
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Age dependency of cystathionine beta-synthase activity in human ...
In order to clarify whether cystathionine beta-synthase ... Homocystinuria/enzymology. Homocystinuria/genetics. Humans. Male. Middle Aged. Skin. Substances: ...
http://www.ncbi.nlm.nih.gov/pubmed/1385957?ordinalpos=2&itoo...
www.ncbi.nlm.nih.gov
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PMID 17349292
... of MTHFR deficiencies that cause homocystinuria or mild hyperhomocysteinemia. ... in MTHFR, in patients with homocystinuria and marked hyperhomocysteinemia. ...
http://www.ncbi.nlm.nih.gov/pubmed/17349292
www.ncbi.nlm.nih.gov
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Identical genotypes in siblings with different homocystinuric ...
... pyridoxine responsive homocystinuria using a significantly improved mutation ... B6 in all cases of homocystinuria, including those in which the mutations ...
http://www.ncbi.nlm.nih.gov/pubmed/7981678
www.ncbi.nlm.nih.gov
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