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Menkes Disease
Menkes disease
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Related in the Kosmos
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Inborn errors of metabolism
(106)
3 methylcrotonyl-coa carboxylase deficiency
Galactose-- 1-phosphate uridylyltransferase galactosemia
Glycogen storage disease type iib
Inborn error of metabolism
Krabbe disease
Krabbe disease
Lipid storage disorder
Maple syrup urine disease
McArdles syndrome
Medium-chain acyl-coenzyme A dehydrogenase deficiency
Mitochondrial trifunctional protein deficiency
2,4 Dienoyl-CoA reductase deficiency
2-Methylbutyryl-CoA dehydrogenase 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
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
Galactosemia
Glucose-galactose malabsorption
Glutaric acidemia type 2
Glutaric aciduria type 1
Glycogen storage disease
Glycogen storage disease type I
Glycogen storage disease type III
Guanidinoacetate methyltransferase deficiency
Hawkinsinuria
Hereditary fructose intolerance
Histidinemia
Holocarboxylase synthetase deficiency
Hyperlysinemia
Hypermethioninemia
Hyperprolinemia
Hypervalinemia
Idiosyncrasy
Inborn error of lipid metabolism
Isobutyryl-coenzyme A dehydrogenase deficiency
Isovaleric acidemia
Lecithin cholesterol acyltransferase deficiency
Lesch–Nyhan syndrome
Lipid storage disorders
Long-chain 3-hydroxya- cyl-coenzyme A dehydrogenase deficiency
Lysinuric protein intolerance
Lysosomal storage disease
Lysosomal storage diseases
Malonyl-CoA decarboxylase deficiency
Metab-L
Methylmalonic acidemia
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
Ornithine translocase 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
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...
Rare diseases
(10)
Occipital horn syndrome
Atransferrinemia
Gangliosidoses gm2
Gaucher disease
Cerebro-oc- ulo-facio-skeletal syndrome
Cerebro-oc- ulo-facio-skeletal syndrome
Wilson disease
Glycogen storage disease type iib
Lipid storage disorder
Krabbe disease
Maple syrup urine disease
more...
Conditions of the skin appendages
Pili torti
Yellow nail syndrome
Diseases and disorders
(60)
Mesangiocapillary glomerulonephritis
Mammary dysplasia
Alport syndrome
Albright's hereditary osteodystrophy
Malignant melanoma
Malignant melanoma
African iron overload
Hypotonia
Mucopolysa- ccharidosis
Progressive sclerosing poliodystrophy
Androgen insensitivity syndrome
MASA syndrome
X-linked sideroblastic anemia
Aceruloplasminemia
Gestational hypertension
Mastalgia
Morvan disease
Hair disease
Acrodermatitis enteropathica
Marinesco sjogren syndrome
Becker's muscular dystrophy
Steely hair syndrome
Senescent
Fukuyama type muscular dystrophy
Multiple hamartoma syndrome
Moebius syndrome
Male turner syndrome
Metatropic dwarfism
Cerebrotendineous xanthomatosis
Myotonic dystrophy
Calcinosis
Muscular dystrophy - Duchenne type
Intracranial cyst
Iron overload disorder
Mediterranean fever, familial
Spinal muscular atrophy type 1
Myopathy myotubular
Subnormal body temperature
Histiocytosis
Pyruvate dehydrogenase deficiency
Kniest dysplasia
Hypercalcaemia
Sialidosis
Aplasia
Mayer-Roki- tansky-Kuster-Hauser syndrome
Fructose bisphosphatase deficiency
Glycogen storage disease type iib
Occipital horn syndrome
Lipid storage disorder
Atransferrinemia
Gangliosidoses gm2
Krabbe disease
Pili torti
Maple syrup urine disease
Gaucher disease
Cerebro-oc- ulo-facio-skeletal syndrome
Wilson disease
Inborn error of metabolism
Galactose-- 1-phosphate uridylyltransferase galactosemia
Mitochondrial trifunctional protein deficiency
Yellow nail syndrome
more...
Autosomal recessive disorders
(20)
Otospondyl- omegaepiphyseal dysplasia
McArdles syndrome
Glycogen storage disease type iib
Mucopolysa- ccharidosis
Aceruloplasminemia
Aceruloplasminemia
Lipid storage disorder
Atransferrinemia
Acrodermatitis enteropathica
Krabbe disease
Maple syrup urine disease
Gaucher disease
Cerebro-oc- ulo-facio-skeletal syndrome
Cerebrotendineous xanthomatosis
Medium-chain acyl-coenzyme A dehydrogenase deficiency
Wilson disease
Mediterranean fever, familial
Spinal muscular atrophy type 1
Galactose-- 1-phosphate uridylyltransferase galactosemia
Mitochondrial trifunctional protein deficiency
3 methylcrotonyl-coa carboxylase deficiency
more...
Skin conditions resulting from errors in metabolism
Adrenoleuk- odystrophy
Calcinosis cutis
Gaucher disease
Cerebrotendineous xanthomatosis
Sialidosis
Neurology
Copper deficiency
Ramsay Hunt syndrome type I
Acquired epileptiform aphasia
Myoclonic Encephalopathy of infants
Neurodegenerative disorder
Adrenoleuk- odystrophy
Myotonic dystrophy
Lysosomal storage diseases
(40)
Alpha-mannosidosis
Aspartylgl- ucosaminuria
Batten disease
Canavan disease
Cholesteryl ester storage disease
Cholesteryl ester storage disease
Cystinosis
Fabry disease
Farber disease
GM1 gangliosidoses
Galactosialidosis
Gangliosidoses gm2
Gangliosidosis
Gaucher disease
Glycogen storage disease type iib
Glycoproteinosis
Hunter syndrome
Hurler syndrome
I-cell disease
Krabbe disease
Lipid storage disorder
Lysosomal storage disease
Metachromatic leukodystrophy
Morquio syndrome
Mucolipidosis
Mucolipidosis type IV
Mucopolysa- ccharidosis
Multiple sulfatase deficiency
Neuronal ceroid lipofuscinosis
Niemann-Pick disease, type C
Niemann–Pick disease
Pseudo-Hurler polydystrophy
Pycnodysostosis
Salla disease
Sandhoff disease
Sanfilippo syndrome
Schindler disease
Sialidosis
Sly syndrome
Tay-Sachs disease
Wolman disease
more...
Iron metabolism
(31)
Aceruloplasminemia
African iron overload
Atransferrinemia
Ceruloplasmin
Ferritin
Ferritin
Ferroportin
HFE hereditary hemochromatosis
Haemochromatosis type 3
Hemojuvelin
Hemoproteins
Hemosiderin
Hemosiderosis
Hepcidin
Hephaestin
Human iron metabolism
Iron deficiency (medicine)
Iron deficiency anemia
Iron metabolism disorder
Iron overload disorder
Iron tests
Iron-binding proteins
Juvenile hemochromatosis
Neonatal hemochromatosis
Serum iron
Siderosis
TFR2
TFRC
Total iron-binding capacity
Transferrin
Transferrin receptor
Transferrin saturation
more...
Muscular dystrophy
(21)
Becker's muscular dystrophy
Biostrophin
Congenital muscular dystrophy
Darius Goes West
Dystrophin
Dystrophin
Emery-Dreifuss muscular dystrophy
Facioscapulohumeral muscular dystrophy
Fukuyama type muscular dystrophy
Help Cure Muscular Dystrophy
Jerry Lewis MDA Telethon
Laminopathy
Moonrise (Penny Wolfson book)
Muscular Dystrophy Community Assistance Research and Education Amendments of 2001
Muscular dystrophy - Duchenne type
Muscular dystrophy organizations
Myostatin
Myotonic dystrophy
Oculopharyngeal muscular dystrophy
People with muscular dystrophy
Robert Ross (CEO)
Walker-Warburg syndrome
more...
Symptoms
Painful menstruation
Caburrum
Seizure
Hypotonia
Mastalgia
Signs and tests
Serum ceruloplasmin
Serum copper level
X-ray of the skeleton
X-ray of the skull
See also
(20)
Maxillofacial injury
Major depression with psychotic features
ATP7A
Medial collateral ligament
Hyper IgM Syndrome Type 1
Hyper IgM Syndrome Type 1
X-linked recessive
Kinky hair
X linked
HFE1
Copper
Copper metabolism
HAMP
Ceruloplasmin
Aicardi syndrome
Deficiency disease
ATP7B
ATPases
Spinocerebellar ataxia
Hirayama syndrome
Dystrophic calcification
more...
more categories...
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