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Related in the Kosmos
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Inborn errors of metabolism
(106)
Carnitine palmitoylt- ransferase II deficiency
Galactosemia
Glutaryl-CoA dehydrogenase deficiency
Glycogen storage disease
Lipidosis
Lipidosis
MCADH deficiency
Maple syrup urine disease
McArdle disease
Methylmalonic aciduria
Newborn screening
Organic acidemia
Phenylketonuria
Pompe disease
Primary carnitine deficiency
Propionic acidemia
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
Aspartylgl- ucosaminuria
Beta-ketothiolase deficiency
Carbamoyl phosphate synthetase I deficiency
Carnitine palmitoylt- ransferase I 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
Glucose-galactose malabsorption
Glutaric acidemia type 2
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
Krabbe disease
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
Menkes disease
Metab-L
Methylmalonyl-CoA mutase deficiency
Mevalonate kinase deficiency
Mitochondrial trifunctional protein deficiency
Myoadenylate deaminase deficiency
N-Acetylglutamate synthase deficiency
Niemann-Pick disease, type C
Ornithine transcarbamylase deficiency
Ornithine translocase deficiency
Prolidase deficiency
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...
Metabolism
Metabolic disorders
Enzyme
Lipolysis
Excretion
Pediatrics
Inborn errors of metabolism
Newborn screening
Diseases and disorders
(48)
Hereditary spherocytic hemolytic anemia
Homocystinuria
Barcoo Fever
Anemia hereditary spherocytic hemolytic
Kanner syndrome
Kanner syndrome
Renal tubular acidosis
Fatty acid oxidation disorders
Congenital spherocytic anemia
Fabry disease
Mucopolysa- ccharidosis
Phosphofructokinase deficiency
Dystonic
Amylopectinosis
Glutaric acidemia
Nephrocalcinosis
Metabolic syndrome
Histiocytosis
Metabolic alkalosis
Tay Sachs disease
Nephrolithiasis
Hemolytic jaundice
Congenital hemolytic anemia
Elective mutism
Congenital heart defects
Pityriasis rubra pilaris
Niemann Pick disease
Pellagra
Insulin resistance
Biotinidase deficiency
Aminoaciduria
Proteinuria
Hypercalcemia
Gouty arthritis
Myopathic
Hyperammonemia
Hypotonia
Rare diseases
Glycogen storage disease
Pompe disease
Metabolic disorders
Primary carnitine deficiency
Organic acidemia
Carnitine palmitoylt- ransferase II deficiency
Phenylketonuria
Methylmalonic aciduria
Maple syrup urine disease
Lipidosis
Galactosemia
more...
Hepatology
Hepatomegaly
Glycogen storage disease
Pompe disease
Primary carnitine deficiency
Amylopectinosis
Carnitine palmitoylt- ransferase II deficiency
Lipolysis
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
GM2 gangliosidoses
Galactosialidosis
Gangliosidosis
Gaucher's disease
Glycoproteinosis
Hunter syndrome
Hurler syndrome
I-cell disease
Krabbe disease
Lipidosis
Lysosomal storage disease
Metachromatic leukodystrophy
Morquio syndrome
Mucolipidosis
Mucolipidosis type IV
Mucopolysa- ccharidosis
Multiple sulfatase deficiency
Neuronal ceroid lipofuscinosis
Niemann Pick disease
Niemann-Pick disease, type C
Pompe disease
Pseudo-Hurler polydystrophy
Pycnodysostosis
Salla disease
Sandhoff disease
Sanfilippo syndrome
Schindler disease
Sialidosis
Sly syndrome
Tay Sachs disease
Wolman disease
more...
Acid-base disturbances
(14)
Anion gap
Lactic acidosis
Metabolic acidosis
Acid-base homeostasis
Acid-base imbalance
Acid-base imbalance
Acidosis
Alkalosis
Hyperchloremic acidosis
Ketoacidosis
Metabolic alkalosis
Renal compensation
Respiratory acidosis
Respiratory alkalosis
Respiratory compensation
more...
Pervasive developmental disorders
(15)
Pervasive developmental disorder
Rett syndrome
Asperger syndrome
Autism Diagnostic Observation Schedule
Childhood disintegrative disorder
Childhood disintegrative disorder
Diagnosis of Asperger syndrome
Epidemiology of autism
Gilliam Asperger's Disorder Scale
Hebrew Academy for Special Children
History of Asperger syndrome
Kanner syndrome
LENA Foundation
PDD-NOS
Pathological demand avoidance
Regressive autism
more...
EC number
Glycogen debranching enzyme
Myophosphorylase
Methylmalonyl-coa mutase
Iduronidase
To cholesterol
(8)
7-Dehydroc- holesterol
CHILD syndrome
Conradi–Hünermann syndrome
Desmosterol
Desmosterolosis
Desmosterolosis
Hydrops-ectopic calcificat- ion-moth-eaten skeletal dysplasia
Lathosterolosis
Smith-Lemli-Opitz syndrome
more...
Common amyloid forming proteins
Amylin
Amyloid precursor protein
Bence Jones protein
Beta amyloid
Beta-2 microglobulin
Serum amyloid A
Transthyretin
Systemic amyloidosis
AA amyloidosis
AL amyloidosis
Familial Mediterranean fever
Finnish type amyloidosis
Haemodialy- sis-associated amyloidosis
Senile systemic amyloidosis
Hyperlipidemia
Combined hyperlipidemia
Familial hyperchole- sterolemia
Hyperchole- sterolemia
Hypertrigl- yceridemia
Lipoprotein lipase deficiency
Xanthoma
See also
(20)
Delirium
Autosomal recessive
Atrial septal defect
Mitochondrial encephalomyopathies
Urea cycle
Urea cycle
Ataxia telangiectasia
Barraquer–Simons syndrome
Bloom syndrome
Cockayne syndrome
Fanconi anemia
Hereditary nonpolyposis colorectal cancer
Hyperimmun- oglobulinemia D with recurrent fever
Li-Fraumeni syndrome
Nijmegen breakage syndrome
Nutrition disorder
Pantothenate kinase-associated neurodegeneration
Rothmund–Thomson syndrome
Severe combined immunodeficiency
Werner syndrome
Xeroderma pigmentosum
more...
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