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Krabbe Disease
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Lipid storage disorders
(13)
Farber disease
GM1 gangliosidoses
Gangliosidoses
Gangliosidoses gm2
Gaucher disease
Gaucher disease
Multiple sulfatase deficiency
Niemann Pick disease
Sandhoff disease
Schindler disease
Tay Sachs disease
Wolman disease
Fabry disease
Niemann-Pick disease, type C
more...
Leukodystrophies
Adrenoleuk- odystrophy
Alexander disease
Canavan disease
Metachromatic leukodystrophy
Pelizaeus-- merzbacher disease
Zellweger syndrome
Metabolic disorders
(58)
Activated protein C resistance
Adenosine deaminase deficiency
Albinism
Alcohol flush reaction
Antithrombin III deficiency
Antithrombin III deficiency
Baker IDI Heart and Diabetes Institute
Blue diaper syndrome
Childhood obesity
Congenital disorder of glycosylation
Congenital hyperinsulinism
Crigler-Najjar syndrome
Diagnostic fast
Disaccharidase
Disorders of calcium metabolism
Ectopic calcification
Farber disease
Fructose malabsorption
GM1 gangliosidoses
Galactosemia
Galactosemic cataract
Gangliosidoses
Gangliosidoses gm2
Gaucher disease
Glycogen storage disease type 0
Hereditary fructose intolerance
Homocystinuria
Hyperglycemia
Hyperinsulinemic hypoglycemia
Hyperinsulinism
Hypoglycemia
Inborn errors of metabolism
Ketotic hypoglycemia
Lactose intolerance
Lipid storage disorders
List of causes of hypoglycemia
Metab-L
Methemoglobinemia
Neuronal ceroid lipofuscinosis
Niemann Pick disease
Niemann-Pick disease, type C
Obesity
Pickardt syndrome
Pycnodysostosis
Refeeding syndrome
Richner Hanhart syndrome
Rotor syndrome
Salicylate sensitivity
Schindler disease
Selfish Brain Theory
Sitosterolemia
Stress hyperglycemia
Sucrose intolerance
Tay Sachs disease
Triosephosphate isomerase deficiency
Urbach–Wiethe disease
Urea cycle disorder
Winchester syndrome
Wolman disease
more...
Inborn errors of metabolism
(106)
Aspartylgl- ucosaminuria
Cholesteryl ester storage disease
Essential fructosuria
Galactose-- 1-phosphate uridylyltransferase galactosemia
Glutaric acidemia type 1
Glutaric acidemia type 1
Ketotic glycinemia
Lesch-nyhan syndrome
Lysosomal storage disease
Lysosomal storage diseases
N-acetylglutamate synthase deficiency
Pompe disease
Sarcosinemia
Sly syndrome
2,4 Dienoyl-CoA reductase deficiency
2-Methylbutyryl-CoA dehydrogenase deficiency
3-Methylcr- otonyl-CoA carboxylase deficiency
3-hydroxy-- 3-methylglutaryl-CoA lyase deficiency
3-hydroxya- cyl-coenzyme A dehydrogenase deficiency
Acatalasia
Acid lipase disease
Adenosine deaminase deficiency
Adenylosuccinate lyase deficiency
Aldolase A deficiency
Analbuminaemia
Arakawa's syndrome II
Argininemia
Argininosuccinic aciduria
Beta-ketothiolase deficiency
Carbamoyl phosphate synthetase I deficiency
Carnitine palmitoylt- ransferase I deficiency
Carnitine palmitoylt- ransferase II deficiency
Carnitine-- acylcarnitine translocase deficiency
Citrullinemia
Congenital disorder of glycosylation
Crigler-Najjar syndrome
D-Glyceric acidemia
DOOR syndrome
Dihydropyrimidine dehydrogenase deficiency
Disaccharidase
Fucosidosis
Fumarase deficiency
Galactosemia
Glucose-galactose malabsorption
Glutaric acidemia type 2
Glycogen storage disease
Glycogen storage disease type I
Glycogen storage disease type III
Glycogen storage disease type V
Guanidinoacetate methyltransferase deficiency
Hawkinsinuria
Hereditary fructose intolerance
Histidinemia
Holocarboxylase synthetase deficiency
Hyperlysinemia
Hypermethioninemia
Hyperprolinemia
Hypervalinemia
Idiosyncrasy
Inborn error of lipid metabolism
Inborn error of metabolism
Isobutyryl-coenzyme A dehydrogenase deficiency
Isovaleric acidemia
Lecithin cholesterol acyltransferase deficiency
Lipid storage disorder
Lipid storage disorders
Long-chain 3-hydroxya- cyl-coenzyme A dehydrogenase deficiency
Lysinuric protein intolerance
Malonyl-CoA decarboxylase deficiency
Maple syrup urine disease
Medium-chain acyl-coenzyme A dehydrogenase deficiency
Menkes disease
Metab-L
Methylmalonic acidemia
Methylmalonyl-CoA mutase deficiency
Mevalonate kinase deficiency
Mitochondrial trifunctional protein deficiency
Myoadenylate deaminase deficiency
Newborn screening
Niemann-Pick disease, type C
Organic acidemia
Ornithine transcarbamylase deficiency
Ornithine translocase deficiency
Phenylketonuria
Primary carnitine deficiency
Prolidase deficiency
Pyruvate carboxylase deficiency
Pyruvate kinase deficiency
Refsum's disease
Rotor syndrome
Schindler disease
Short-chain acyl-coenzyme A dehydrogenase deficiency
Smith-Lemli-Opitz syndrome
Succinic semialdehyde dehydrogenase deficiency
Tangier disease
Tetrahydrobiopterin deficiency
Trimethylaminuria
Type I tyrosinemia
Type III tyrosinemia
Tyrosinemia
Tyrosinemia type II
Urea cycle disorder
Urocanic aciduria
Very long-chain acyl-coenzyme A dehydrogenase deficiency
Wolman disease
X-linked ichthyosis
Zellweger syndrome
more...
Lysosomal storage diseases
(39)
Batten disease
Hurler syndrome
Mucolipidosis I
Mucolipidosis II
Pseudo-Hurler polydystrophy
Pseudo-Hurler polydystrophy
Scheie syndrome
Alpha-mannosidosis
Aspartylgl- ucosaminuria
Canavan disease
Cholesteryl ester storage disease
Cystinosis
Fabry disease
Farber disease
GM1 gangliosidoses
Galactosialidosis
Gangliosidoses
Gangliosidoses gm2
Gaucher disease
Glycoproteinosis
Hunter syndrome
Lipid storage disorder
Lysosomal storage disease
Metachromatic leukodystrophy
Morquio syndrome
Mucolipidosis
Mucolipidosis type IV
Multiple sulfatase deficiency
Neuronal ceroid lipofuscinosis
Niemann Pick disease
Niemann-Pick disease, type C
Pompe disease
Pycnodysostosis
Salla disease
Sandhoff disease
Sanfilippo syndrome
Schindler disease
Sly syndrome
Tay Sachs disease
Wolman disease
more...
Autosomal recessive disorders
(248)
Bare lymphocyte syndrome
Cerebrotendineous xanthomatosis
Cofs syndrome
Kugelberg-Welander syndrome
Tay-sachs disease, ab variant
Tay-sachs disease, ab variant
Transgradiens of siemens
17-beta-hy- droxysteroid dehydrogenase deficiency
2-Hydroxyglutaric aciduria
3-Methylcr- otonyl-CoA carboxylase deficiency
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
Batten disease
Behr's syndrome
Bernard-Soulier syndrome
Beta-ketothiolase deficiency
Beta-mannosidosis
Bietti's crystalline dystrophy
Biotinidase deficiency
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
Chediak–Higashi syndrome
Chondrodystrophy
Chorea acanthocytosis
Citrullinemia
Compound heterozygosity
Congenital adrenal hyperplasia
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Congenital hepatic fibrosis
Congenital ichthyosiform erythroderma
Congenital insensitivity to pain with anhidrosis
Craniodiaphyseal dysplasia
Cystathioninuria
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
Galactokinase deficiency
Galactose epimerase deficiency
Galactose-- 1-phosphate uridylyltransferase galactosemia
Galloway Mowat syndrome
Gangliosidoses
Gastroschisis
Gaucher disease
Gerodermia osteodysplastica
Giant axonal neuropathy
Gitelman syndrome
Glanzmann's thrombasthenia
Glucose-galactose malabsorption
Glutaric acidemia type 1
Glutaric acidemia type 2
Glutathione synthetase deficiency
Glycogen storage disease type I
Glycogen storage disease type III
Glycogen storage disease type V
Griscelli syndrome
Guanidinoacetate methyltransferase deficiency
Gunther disease
Hartnup disease
Hemophagocytic lymphohistiocytosis
Hereditary pyropoikilocytosis
Hermansky–Pudlak syndrome
Histidinemia
Holocarboxylase synthetase deficiency
Homocystinuria
Hurler syndrome
Hyperlysinemia
Hypermethioninemia
Hyperprolinemia
Hypertryptophanemia
Hypervalinemia
ICF syndrome
Ichthyosis lamellaris
Iminoglycinuria
Impossible syndrome
Infantile free sialic acid storage disease
Infantile neuroaxonal dystrophy
Isobutyryl-coenzyme A dehydrogenase deficiency
Isovaleric acidemia
Jervell and Lange-Nielsen syndrome
Johanson-Blizzard syndrome
Juvenile Primary Lateral Sclerosis
Kaufman oculocerebrofacial syndrome
Ketotic glycinemia
Keutel syndrome
Kindler syndrome
Lafora disease
Laron syndrome
Lecithin cholesterol acyltransferase deficiency
Leukocyte adhesion deficiency
Lipid storage disorder
Lipoid congenital adrenal hyperplasia
Long-chain 3-hydroxya- cyl-coenzyme A dehydrogenase deficiency
Lucey-Driscoll syndrome
Lysinuric protein intolerance
Malonyl-CoA decarboxylase deficiency
Maple syrup urine disease
Meckel syndrome
Medium-chain acyl-coenzyme A dehydrogenase deficiency
Metachromatic leukodystrophy
Methemoglobinemia
Methylmalonic acidemia
Mevalonate kinase deficiency
Micro syndrome
Microvillous inclusion disease
Mitochondrial trifunctional protein deficiency
Morquio syndrome
Mucolipidosis
Mucolipidosis type IV
Multiple sulfatase deficiency
N-acetylglutamate synthase deficiency
Nemaline myopathy
Nephronophthisis
Netherton syndrome
Neuronal ceroid lipofuscinosis
Nezelof syndrome
Niemann Pick disease
Niemann-Pick disease, type C
Ochronosis
Oculodentodigital syndrome
Oguchi disease
Omenn syndrome
Ornithine translocase deficiency
Orotic aciduria
Otospondyl- omegaepiphyseal dysplasia
Papillon–Lefèvre syndrome
Pendred syndrome
Persistent Mullerian duct syndrome
Phenylketonuria
Phosphofructokinase deficiency
Pompe disease
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
Scheie syndrome
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
Tangier disease
Tay Sachs disease
Tetrahydrobiopterin deficiency
Thalassemia
Trimethylaminuria
Triosephosphate isomerase deficiency
Type I tyrosinemia
Type III tyrosinemia
Tyrosinemia
Tyrosinemia type II
Urbach–Wiethe disease
Urocanic aciduria
Usher syndrome
Vaso-occlusive crisis
Very long-chain acyl-coenzyme A dehydrogenase deficiency
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
more...
Rare diseases
(26)
Klippel Trenaunay syndrome
Keratolytic winter erythema
Kabuki make up syndrome
Metachromatic leukodystrophy
GM1 gangliosidoses
GM1 gangliosidoses
Farber disease
Wolman disease
Niemann Pick disease
Tay-sachs disease, ab variant
Sly syndrome
Multiple sulfatase deficiency
Cholesteryl ester storage disease
Alexander disease
Gangliosidoses gm2
Gaucher disease
Pompe disease
Sandhoff disease
Ketotic glycinemia
Gangliosidoses
Lesch-nyhan syndrome
Sarcosinemia
Aspartylgl- ucosaminuria
Transgradiens of siemens
Schindler disease
Cofs syndrome
Tay Sachs disease
more...
Genetic disorders
(45)
Polycystic kidney
Klinefelters syndrome
Niemann-Pick disease, SMPD1-associated
Kniest chondrodystrophy
Kallmann syndrome
Kallmann syndrome
Kostmann syndrome
Metachromatic leukodystrophy
Leukodystrophies
Canavan disease
Cerebrotendineous xanthomatosis
GM1 gangliosidoses
Farber disease
Wolman disease
Niemann Pick disease
Tay-sachs disease, ab variant
Batten disease
Sly syndrome
Multiple sulfatase deficiency
Cholesteryl ester storage disease
Alexander disease
Gangliosidoses gm2
Adrenoleuk- odystrophy
Gaucher disease
Pompe disease
Sandhoff disease
Ketotic glycinemia
Galactose-- 1-phosphate uridylyltransferase galactosemia
Gangliosidoses
Keratolytic winter erythema
Lesch-nyhan syndrome
Essential fructosuria
Glutaric acidemia type 1
N-acetylglutamate synthase deficiency
Hurler syndrome
Sarcosinemia
Aspartylgl- ucosaminuria
Schindler disease
Pseudo-Hurler polydystrophy
Cofs syndrome
Scheie syndrome
Pelizaeus-- merzbacher disease
Bare lymphocyte syndrome
Kabuki make up syndrome
Tay Sachs disease
Kugelberg-Welander syndrome
more...
Diseases and disorders
(23)
Klumpke paralysis
Koilonychia
Fructose bisphosphatase deficiency
Leukoencephalopathy with neuroaxonal spheroids
Maroteaux-Lamy syndrome
Maroteaux-Lamy syndrome
Lymphohistiocytosis
Kohler disease
Refractory anemia
Foix-Alajouanine syndrome
Metachromatic leukodystrophy
Cerebrotendineous xanthomatosis
GM1 gangliosidoses
Farber disease
Wolman disease
Niemann Pick disease
Multiple sulfatase deficiency
Mucolipidosis I
Gangliosidoses gm2
Klippel Trenaunay syndrome
Sandhoff disease
Gangliosidoses
Kostmann syndrome
Tay Sachs disease
more...
Medical condition
(60)
Solar keratosis
Sicca
Kufs disease
Leukodystrophy
Katayama fever
Katayama fever
Keratosis seborrheic
Knee sprain
Kidney failure, acute
Kaposis Sarcoma
Kidney failure, chronic
Jansky-bielschowsky disease
Sphingolipidoses
Sea-blue histiocyte syndrome
Galactosyl- ceramidase deficiency disease
Acute biphenotypic leukemia
Kissing disease
Acute disseminated encephalomyelitis
Feeding difficulties
Reticular dysgenesis
Kbg syndrome
Pure red cell aplasia
Kernicterus
Demyelinating diseases
Metachromatic leukodystrophy
Canavan disease
Klumpke paralysis
Cerebrotendineous xanthomatosis
Lysosomal storage diseases
Klinefelters syndrome
Farber disease
Wolman disease
Batten disease
Sly syndrome
Mucolipidosis I
Cholesteryl ester storage disease
Alexander disease
Gaucher disease
Pompe disease
Sandhoff disease
Galactose-- 1-phosphate uridylyltransferase galactosemia
Lymphohistiocytosis
Keratolytic winter erythema
Kohler disease
Lesch-nyhan syndrome
Kniest chondrodystrophy
Essential fructosuria
Refractory anemia
Hurler syndrome
Sarcosinemia
Aspartylgl- ucosaminuria
Transgradiens of siemens
Kallmann syndrome
Schindler disease
Cofs syndrome
Scheie syndrome
Pelizaeus-- merzbacher disease
Bare lymphocyte syndrome
Kabuki make up syndrome
Tay Sachs disease
Kugelberg-Welander syndrome
more...
Kidney diseases
Kidney tumor
Kimmelstiel-Wilson disease
Polycystic kidney
Kidney failure, acute
Kidney failure, chronic
Medicine
Kyphoscoliosis
Interstitial keratitis
Vascular myelopathy
Diseases and disorders
Symptoms
Opisthotonos
Decreased muscle tone
Abnormal posturing
Failure to thrive
Seizure
Feeding difficulties
Signs and tests
Nerve conduction study
CSF total protein
MRI of the head
Retina
Abnormal posturing
See also
(20)
Knock knees
Kala azar
Medial collateral ligament, knee
Korsakoff psychosis
Galactosyl- ceramidase
Galactosyl- ceramidase
Meniscus (knee)
Galactocerebroside
Beta galactosidase
Mixed disorder of acid-base balance
People of Scandinavian descent
Glycolipid
Langer-Saldino dysplasia
Kinsbourne syndrome
Sphingolipids
Krabb
Amniocentesis
Autosomal recessive pattern
Central nervous system
Chorionic villus sampling
Genetic counseling
more...
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