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Homocystinuria
Homocystinuria
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Metabolic disorders
Galactosemia
Inborn errors of metabolism
Urea cycle disorders
Autosomal recessive disorders
(248)
3 methylcrotonyl-coa carboxylase deficiency
Beta-ketothiolase deficiency
Biotinidase deficiency
Citrullinemia
Congenital adrenal hyperplasia
Congenital adrenal hyperplasia
Cystathioninuria
Glutaric acidemia type 2
Glutaric acidemia type I
HHH syndrome
Hartnup disease
Holocarboxylase synthetase deficiency
Hypermethioninemia
Hyperprolinemia
Isobutyryl-CoA dehydrogenase deficiency
Isovaleric acidemia
LCHAD
MSUD
Medium chain acyl CoA dehydrogenase deficiency
Methylmalonic aciduria
Phenylketonuria
Propionic acidemia
Trifunctional protein deficiency
Type I tyrosinemia
Tyrosinemia type II
Very-long-chain acyl-CoA dehydrogenase deficiency
17-beta-hy- droxysteroid dehydrogenase deficiency
2-Hydroxyglutaric aciduria
Abdallat Davis Farrage syndrome
Abderhalde- n-Kaufmann-Lignac syndrome
Abetalipop- roteinemia
Ablepharon macrostomia syndrome
Acatalasia
Aceruloplasminemia
Acheiropodia
Acrocallosal syndrome
Acrodermatitis enteropathica
Acute fatty liver of pregnancy
Adducted thumb syndrome
Adenine phosphorib- osyltransferase deficiency
Adenosine deaminase deficiency
Adenylosuccinate lyase deficiency
Aicardi-Goutieres syndrome
Aldolase A deficiency
Alkaptonuria
Alpha-mannosidosis
Antley-Bixler syndrome
Argininemia
Argininosuccinic aciduria
Arterial tortuosity syndrome
Aspartylgl- ucosaminuria
Atelosteogenesis, type II
Atransferrinemia
Bare lymphocyte syndrome
Batten disease
Behr's syndrome
Bernard-Soulier syndrome
Beta-mannosidosis
Bietti's crystalline dystrophy
Bloom syndrome
Blue diaper syndrome
CAMFAK syndrome
Canavan disease
Carbamoyl phosphate synthetase I deficiency
Carnitine palmitoylt- ransferase I deficiency
Carnitine palmitoylt- ransferase II deficiency
Carnitine-- acylcarnitine translocase deficiency
Carnosinemia
Carpenter syndrome
Cartilage–hair hypoplasia
Cenani Lenz syndactylism
Cerebrotendineous xanthomatosis
Chediak–Higashi syndrome
Chondrodystrophy
Chorea acanthocytosis
Cockayne syndrome
Compound heterozygosity
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Congenital hepatic fibrosis
Congenital ichthyosiform erythroderma
Congenital insensitivity to pain with anhidrosis
Craniodiaphyseal dysplasia
Cystic fibrosis
Cystinosis
Cystinuria
D-Glyceric acidemia
DOOR syndrome
Diastrophic dysplasia
Dihydropyrimidine dehydrogenase deficiency
Donohue syndrome
Dubin-Johnson syndrome
Dubowitz syndrome
EAST syndrome
EEM syndrome
Ellis-van Creveld syndrome
Essential fructosuria
Ethylmalonic encephalopathy
Familial Mediterranean fever
Familial dysautonomia
Familial isolated vitamin E deficiency
Fanconi anemia
Farber disease
Fibrochondrogenesis
Finnish heritage disease
Fountain syndrome
Friedreich's ataxia
Fucosidosis
Fumarase deficiency
GM2-gangliosidosis, AB variant
Galactokinase deficiency
Galactose epimerase deficiency
Galactose-- 1-phosphate uridylyltransferase galactosemia
Galloway Mowat syndrome
Gangliosidosis
Gastroschisis
Gaucher's disease
Gerodermia osteodysplastica
Giant axonal neuropathy
Gitelman syndrome
Glanzmann's thrombasthenia
Glucose-galactose malabsorption
Glutathione synthetase deficiency
Glycogen storage disease type I
Glycogen storage disease type II
Glycogen storage disease type III
Glycogen storage disease type V
Griscelli syndrome
Guanidinoacetate methyltransferase deficiency
Gunther disease
Hemophagocytic lymphohistiocytosis
Hereditary pyropoikilocytosis
Hermansky–Pudlak syndrome
Histidinemia
Hurler syndrome
Hyperlysinemia
Hypertryptophanemia
Hypervalinemia
ICF syndrome
Ichthyosis lamellaris
Iminoglycinuria
Impossible syndrome
Infantile free sialic acid storage disease
Infantile neuroaxonal dystrophy
Jervell and Lange-Nielsen syndrome
Johanson-Blizzard syndrome
Juvenile Primary Lateral Sclerosis
Kaufman oculocerebrofacial syndrome
Keutel syndrome
Kindler syndrome
Krabbe disease
Lafora disease
Laron syndrome
Lecithin cholesterol acyltransferase deficiency
Leukocyte adhesion deficiency
Lipid storage disorder
Lipoid congenital adrenal hyperplasia
Lucey-Driscoll syndrome
Lysinuric protein intolerance
Malonyl-CoA decarboxylase deficiency
Meckel syndrome
Meleda disease
Metachromatic leukodystrophy
Methemoglobinemia
Mevalonate kinase deficiency
Micro syndrome
Microvillous inclusion disease
Morquio syndrome
Mucolipidosis
Mucolipidosis type IV
Mucopolysa- ccharidosis
Multiple sulfatase deficiency
N-Acetylglutamate synthase deficiency
Nemaline myopathy
Nephronophthisis
Netherton syndrome
Neuronal ceroid lipofuscinosis
Nezelof syndrome
Niemann-Pick disease, type C
Niemann–Pick disease
Ochronosis
Oculodentodigital syndrome
Oguchi disease
Omenn syndrome
Orotic aciduria
Otospondyl- omegaepiphyseal dysplasia
Papillon–Lefèvre syndrome
Pendred syndrome
Persistent Mullerian duct syndrome
Phosphofructokinase deficiency
Primary carnitine deficiency
Primary ciliary dyskinesia
Progressive external ophthalmoplegia
Prolidase deficiency
Pseudodominance
Pseudoxanthoma elasticum
Purine nucleoside phosphorylase deficiency
Pycnodysostosis
Pyruvate carboxylase deficiency
Rabson-Mendenhall syndrome
Raine syndrome
Rapadilino syndrome
Recessive multiple epiphyseal dysplasia
Renal dysplasia-limb defects syndrome
Renal-hepa- tic-pancreatic dysplasia
Reproductive compensation
Restrictive dermopathy
Richner Hanhart syndrome
Rothmund–Thomson syndrome
Rotor syndrome
Sabinas brittle hair syndrome
Saccharopinuria
Salla disease
Sandhoff disease
Sanfilippo syndrome
Sarcosinemia
Short-chain acyl-coenzyme A dehydrogenase deficiency
Shwachman-Diamond syndrome
Sickle cell trait
Sickle-cell disease
Situs inversus
Sly syndrome
Smith-Lemli-Opitz syndrome
Succinic semialdehyde dehydrogenase deficiency
Sugarman syndrome
Survival motor neuron spinal muscular atrophy
Tangier disease
Tay-Sachs disease
Tetrahydrobiopterin deficiency
Thalassemia
Trimethylaminuria
Triosephosphate isomerase deficiency
Type III tyrosinemia
Tyrosinemia
Urbach–Wiethe disease
Urocanic aciduria
Usher syndrome
Vaso-occlusive crisis
Vici syndrome
Weissenbac- her-Zweymüller syndrome
Werner syndrome
Wilson's disease
Wolcott-Rallison syndrome
Wolman disease
Woodhouse-Sakati syndrome
Xeroderma pigmentosum
Yunis-Varon syndrome
ZAP70 deficiency
Zazam Sheriff Phillips syndrome
Zunich–Kaye syndrome
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Genetic disorders
(33)
Hyperimmunoglobulin E syndrome
Marfan
Arachnodactyly
HMG-CoA lyase deficiency
2-Methylbutyryl-CoA dehydrogenase deficiency
2-Methylbutyryl-CoA dehydrogenase deficiency
Hereditary disorder
Methylmalonic aciduria
Phenylketonuria
Galactosemia
Isobutyryl-CoA dehydrogenase deficiency
Hypermethioninemia
Holocarboxylase synthetase deficiency
Type I tyrosinemia
MSUD
Glutaric acidemia type I
HHH syndrome
Biotinidase deficiency
Tyrosinemia type II
Very-long-chain acyl-CoA dehydrogenase deficiency
Trifunctional protein deficiency
Cystathioninuria
Isovaleric acidemia
Beta-ketothiolase deficiency
3 methylcrotonyl-coa carboxylase deficiency
Citrullinemia
Hartnup disease
LCHAD
Glutaric acidemia type 2
Hyperprolinemia
Medium chain acyl CoA dehydrogenase deficiency
Propionic acidemia
Congenital adrenal hyperplasia
Urea cycle disorders
more...
Medical condition
(35)
Hypochondriacal neurosis
Hutchinson incisors
Hyperchylo- micronemia
Hypolipoproteinemia
Horizontal nystagmus
Horizontal nystagmus
Horners syndrome
Hypercalciuria
Methylenet- etrahydrofolate reductase deficiency
Congenital hypothyroidism
Megaloblastic anemia
Hyperhomoc- ysteinemia
Mental retardation
Nearsightedness
Pectus carinatum
Pes cavus
Pectus excavatum
Dysostosis
Blood clots
Hyperimmunoglobulin E syndrome
Methylmalonic aciduria
Phenylketonuria
Marfan
Galactosemia
Arachnodactyly
Holocarboxylase synthetase deficiency
MSUD
Biotinidase deficiency
Tyrosinemia type II
Trifunctional protein deficiency
Beta-ketothiolase deficiency
Citrullinemia
Hartnup disease
Hyperprolinemia
Congenital adrenal hyperplasia
Urea cycle disorders
more...
Pediatrics
Newborn screening
Failure to thrive
Hyperimmunoglobulin E syndrome
Inborn errors of metabolism
Congenital hypothyroidism
Congenital adrenal hyperplasia
Hematology
Hyperviscosity.
Hypolipoproteinemia
Blood clots
Metabolism
Cystathionine synthase
Amino acid metabolism
Metabolic disorders
B vitamins
(13)
Adenosylcobalamin
Cyanocobalamin
Vitamin B6
Vitamin b 12
Benfotiamine
Benfotiamine
Hemarexin
Hydroxocobalamin
Methylcobalamin
Niacin
Panthenol
Pyridoxal phosphate
Pyridoxamine
Vitamin I
more...
Cofactors
(17)
Adenosylcobalamin
Biotin
Cofactor (biochemistry)
Cyanocobalamin
Factor VIII
Factor VIII
Flavin mononucleotide
Heme
Heparin cofactor II
High-molec- ular-weight kininogen
Lipoic acid
Methylcobalamin
Molybdopterin
Pterin
Pyrroloquinoline quinone
Thiamine pyrophosphate
Vitamin B6
Vitamin b 12
more...
Dietary supplement
Methionine
Pyridoxine
Cystadane
Cyanocobalamin
Vitamin b 12
Vitamin B6
Inborn errors of metabolism
(107)
2,4 Dienoyl-CoA reductase deficiency
2-Methylbutyryl-CoA dehydrogenase deficiency
3 methylcrotonyl-coa carboxylase deficiency
3-hydroxya- cyl-coenzyme A dehydrogenase deficiency
Acatalasia
Acatalasia
Acid lipase disease
Adenosine deaminase deficiency
Adenylosuccinate lyase deficiency
Aldolase A deficiency
Analbuminaemia
Arakawa's syndrome II
Argininemia
Argininosuccinic aciduria
Aspartylgl- ucosaminuria
Beta-ketothiolase deficiency
Carbamoyl phosphate synthetase I deficiency
Carnitine palmitoylt- ransferase I deficiency
Carnitine palmitoylt- ransferase II deficiency
Carnitine-- acylcarnitine translocase deficiency
Cholesteryl ester storage disease
Citrullinemia
Congenital disorder of glycosylation
Crigler-Najjar syndrome
D-Glyceric acidemia
DOOR syndrome
Dihydropyrimidine dehydrogenase deficiency
Disaccharidase
Essential fructosuria
Fucosidosis
Fumarase deficiency
Galactose-- 1-phosphate uridylyltransferase galactosemia
Galactosemia
Glucose-galactose malabsorption
Glutaric acidemia type 2
Glutaric acidemia type I
Glycogen storage disease
Glycogen storage disease type I
Glycogen storage disease type II
Glycogen storage disease type III
Glycogen storage disease type V
Guanidinoacetate methyltransferase deficiency
HHH syndrome
HMG-CoA lyase deficiency
Hawkinsinuria
Hereditary fructose intolerance
Histidinemia
Holocarboxylase synthetase deficiency
Hyperlysinemia
Hypermethioninemia
Hyperprolinemia
Hypervalinemia
Idiosyncrasy
Inborn error of lipid metabolism
Inborn error of metabolism
Isobutyryl-CoA dehydrogenase deficiency
Isovaleric acidemia
Krabbe disease
LCHAD
Lecithin cholesterol acyltransferase deficiency
Lesch–Nyhan syndrome
Lipid storage disorder
Lipid storage disorders
Lysinuric protein intolerance
Lysosomal storage disease
Lysosomal storage diseases
MSUD
Malonyl-CoA decarboxylase deficiency
Medium chain acyl CoA dehydrogenase deficiency
Menkes disease
Metab-L
Methylmalonic aciduria
Methylmalonyl-CoA mutase deficiency
Mevalonate kinase deficiency
Myoadenylate deaminase deficiency
N-Acetylglutamate synthase deficiency
Newborn screening
Niemann-Pick disease, type C
Organic acidemia
Ornithine transcarbamylase deficiency
Phenylketonuria
Primary carnitine deficiency
Prolidase deficiency
Propionic acidemia
Pyruvate carboxylase deficiency
Pyruvate kinase deficiency
Refsum's disease
Rotor syndrome
Sarcosinemia
Schindler disease
Short-chain acyl-coenzyme A dehydrogenase deficiency
Sly syndrome
Smith-Lemli-Opitz syndrome
Succinic semialdehyde dehydrogenase deficiency
Tangier disease
Tetrahydrobiopterin deficiency
Trifunctional protein deficiency
Trimethylaminuria
Type I tyrosinemia
Type III tyrosinemia
Tyrosinemia
Tyrosinemia type II
Urea cycle disorders
Urocanic aciduria
Very-long-chain acyl-CoA dehydrogenase deficiency
Wolman disease
X-linked ichthyosis
Zellweger syndrome
more...
Causes, incidence, and risk factors
Dislocation
High arches of the feet
Scoliosis
Visual problems
Marfan syndrome
Arachnodactyly
Signs and tests
(9)
Cataract
Enzyme
Enzyme assay
Glaucoma
Liver biopsy
Liver biopsy
Retinal detachment
Skin biopsy
Standard ophthalmic exam
X-ray
more...
See also
(20)
Diseases and disorders
Human artificial chromosome
Hyperparat- hyroidism, secondary
Hypertrophic scar
MMACHC
MMACHC
Hypertrigl- yceridemia
Homocysteine
Cystathionine
Dolichostenomelia
CBLC
Ectopia lentis
Betaine
Genetic counseling
Intrauterine
Genu valgum
(methionine synthase) reductase
FAAP
Amino acid
Mtrr
Autosomal recessive
more...
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