Genetic Diseases & Conditions - Food, nutrition, and metabolism

Metabolism is the total of all chemical changes that take place in a cell or an organism. These changes produce energy and basic materials needed for important life processes. Some disorders of metabolism have a strong genetic component.

AB variant see GM2-gangliosidosis, AB variant
ACADM deficiency see medium-chain acyl-coenzyme A dehydrogenase deficiency
ACADVL see very long-chain acyl-coenzyme A dehydrogenase deficiency
Activator-deficient Tay-Sachs disease see GM2-gangliosidosis, AB variant
Acute cerebral Gaucher's disease see Gaucher disease, type 2
acute intermittent porphyria
ACY2 deficiency see Canavan disease
acyl-CoA dehydrogenase very long chain deficiency see very long-chain acyl-coenzyme A dehydrogenase deficiency
ADP see ALAD deficiency porphyria
AIP see acute intermittent porphyria
AKU see alkaptonuria
5-ALA dehydratase-deficient porphyria see ALAD deficiency porphyria
ALA-D porphyria see ALAD deficiency porphyria
ALA dehydratase porphyria see ALAD deficiency porphyria
ALAD deficiency porphyria
Alcaptonuria see alkaptonuria
alkaptonuria
Alkaptonuric ochronosis see alkaptonuria
2-alpha-methyl-3-hydroxybutyricacidaemia see beta-ketothiolase deficiency
3-alpha-ketothiolase deficiency see beta-ketothiolase deficiency
3-alpha-ktd deficiency see beta-ketothiolase deficiency
3-alpha-oxothiolase deficiency see beta-ketothiolase deficiency
Alpha-galactosidase A deficiency see Fabry disease
alpha-Methylacetoacetic aciduria see beta-ketothiolase deficiency
Amino levulinic acid dehydratase deficiency see ALAD deficiency porphyria
Aminoacylase 2 deficiency see Canavan disease
5-aminolaevulinic dehydratase deficiency porphyria see ALAD deficiency porphyria
Anderson-Fabry Disease see Fabry disease
Angiokeratoma Corporis Diffusum see Fabry disease
Angiokeratoma diffuse see Fabry disease
Argininosuccinate lyase deficiency see argininosuccinic aciduria
argininosuccinic aciduria
argininosuccinyl-CoA lyase deficiency see argininosuccinic aciduria
arginosuccinase deficiency see argininosuccinic aciduria
ASL deficiency see argininosuccinic aciduria
Asp deficiency see Canavan disease
Aspa deficiency see Canavan disease
Aspartoacylase deficiency see Canavan disease
B variant GM2 gangliosidosis see Tay-Sachs disease
BCKD deficiency see maple syrup urine disease
Beta-hexosaminidase-beta-subunit deficiency see Sandhoff disease
beta-ketothiolase deficiency
BH4 Deficiency see tetrahydrobiopterin deficiency
biotinidase deficiency
BMCC deficiency see 3-methylcrotonyl-CoA carboxylase deficiency
Branched-chain alpha-keto acid dehydrogenase deficiency see maple syrup urine disease
Branched-Chain Ketoaciduria see maple syrup urine disease
Bronze Diabetes see haemochromatosis
Bronzed cirrhosis see haemochromatosis
Burger-Grutz syndrome see familial lipoprotein lipase deficiency
CACT deficiency see carnitine-acylcarnitine translocase deficiency
Canavan disease
Carboxylase Deficiency, Multiple, Late-Onset see biotinidase deficiency
carnitine-acylcarnitine translocase deficiency
carnitine palmitoyltransferase I deficiency
carnitine palmitoyltransferase II deficiency
Carnitine transporter deficiency see primary carnitine deficiency
carnitine uptake defect see primary carnitine deficiency
carnitine uptake deficiency see primary carnitine deficiency
CEP see congenital erythropoietic porphyria
Ceramide trihexosidase deficiency see Fabry disease
Cerebroside Lipidosis Syndrome see Gaucher disease
citrullinaemia
Citrullinuria see citrullinaemia
Classic Galactosaemia see galactosaemia
Classical Phenylketonuria see phenylketonuria
congenital erythropoietic porphyria
Copper storage disease see Wilson disease
Copper transport disease see Menkes syndrome
Coproporphyria, Hereditary see hereditary coproporphyria
Coproporphyrinogen oxidase deficiency see hereditary coproporphyria
CPO deficiency see hereditary coproporphyria
CPRO deficiency see hereditary coproporphyria
CPT deficiency, hepatic, type I see carnitine palmitoyltransferase I deficiency
CPT I deficiency see carnitine palmitoyltransferase I deficiency
CPT2 - Carnitine palmitoyltransferase II deficiency see carnitine palmitoyltransferase II deficiency
CPTII - Carnitine palmitoyltransferase deficiency type II see carnitine palmitoyltransferase II deficiency
CPX deficiency see hereditary coproporphyria
CUD see primary carnitine deficiency
Cystine diathesis see cystinosis
Cystine disease see cystinosis
Cystine storage disease see cystinosis
Cystinoses see cystinosis
cystinosis
D-glycerate dehydrogenase deficiency see primary hyperoxaluria
Deficiency Disease, Phenylalanine Hydroxylase see phenylketonuria
Deficiency of glucose-6-phosphate dehydrogenase see glucose-6-phosphate dehydrogenase deficiency
Deficiency of hydroxymethylglutaryl-CoA lyase see 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
Deficiency of methylcrotonoyl-CoA carboxylase see 3-methylcrotonyl-CoA carboxylase deficiency
Delta-aminolevulinate dehydratase deficiency porphyria see ALAD deficiency porphyria
Diffuse Globoid Body Sclerosis see Krabbe disease
Doss porphyria see ALAD deficiency porphyria
Early-Onset Biotin-Responsive Multiple Carboxylase Deficiency see holocarboxylase synthetase deficiency
Early-Onset Combined Carboxylase Deficiency see holocarboxylase synthetase deficiency
Electron transfer flavoprotein deficiency see glutaric acidaemia type II
EMA see glutaric acidaemia type II
EPP see erythropoietic protoporphyria
Erythrohepatic protoporphyria see erythropoietic protoporphyria
Erythropoietic Porphyria see congenital erythropoietic porphyria
erythropoietic protoporphyria
Erythropoietic uroporphyria see congenital erythropoietic porphyria
ETFA deficiency see glutaric acidaemia type II
ETFB deficiency see glutaric acidaemia type II
ETFDH deficiency see glutaric acidaemia type II
Ethylmalonic-adipicaciduria see glutaric acidaemia type II
Fabry disease
Familial Haemochromatosis see haemochromatosis
familial lipoprotein lipase deficiency
Familial PCT see porphyria cutanea tarda
Ferrochelatase deficiency see erythropoietic protoporphyria
ferroportin disease see haemochromatosis, type 4
Fish malodour syndrome see trimethylaminuria
Fish odour syndrome see trimethylaminuria
Folling Disease see phenylketonuria
G6PD Deficiency see glucose-6-phosphate dehydrogenase deficiency
G6PDD see glucose-6-phosphate dehydrogenase deficiency
GA I see glutaric acidaemia type I
GA II see glutaric acidaemia type II
Galactokinase Deficiency Disease see galactosaemia
Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease see galactosaemia
galactosaemia
Galactosylceramidase Deficiency Disease see Krabbe disease
Galactosylceramide lipidosis see Krabbe disease
galactosylcerebrosidase deficiency see Krabbe disease
galactosylsphingosine lipidosis see Krabbe disease
GALC deficiency see Krabbe disease
GALT Deficiency see galactosaemia
Gaucher disease
GD see Gaucher disease
genetic haemochromatosis see haemochromatosis
Giant cell hepatitis, neonatal see haemochromatosis, neonatal
GLA deficiency see Fabry disease
globoid cell leukodystrophy (GCL, GLD) see Krabbe disease
globoid cell leukoencephalopathy see Krabbe disease
Glucocerebrosidase deficiency see Gaucher disease
Glucocerebrosidosis see Gaucher disease
glucose-6-phosphate dehydrogenase deficiency
Glucosyl cerebroside lipidosis see Gaucher disease
Glucosylceramidase deficiency see Gaucher disease
Glucosylceramide beta-glucosidase deficiency see Gaucher disease
Glucosylceramide lipidosis see Gaucher disease
glutaric acidaemia type I
glutaric acidaemia type II
Glutaryl-CoA dehydrogenase deficiency see glutaric acidaemia type I
glyceric aciduria see primary hyperoxaluria
glycolic aciduria see primary hyperoxaluria
GM2 Activator Deficiency Disease see GM2-gangliosidosis, AB variant
GM2-gangliosidosis, AB variant
GM2 gangliosidosis, type 1 see Tay-Sachs disease
GM2 gangliosidosis, type 2 see Sandhoff disease
GM2 Gangliosidosis, Type II see Sandhoff disease
Guenther porphyria see congenital erythropoietic porphyria
Gunther Disease see congenital erythropoietic porphyria
Haemochromatosis see haemochromatosis
HCP see hereditary coproporphyria
HEF2A see haemochromatosis, type 2
HEF2B see haemochromatosis, type 2
Hematoporphyria see porphyria
Haeme synthetase deficiency see erythropoietic protoporphyria
Haemochromatoses see haemochromatosis
haemochromatosis
HEP see hepatoerythropoietic porphyria
hepatic AGT deficiency see primary hyperoxaluria
hepatoerythropoietic porphyria
Hepatolenticular degeneration syndrome see Wilson disease
hereditary coproporphyria
Hereditary dystopic lipidosis see Fabry disease
Hereditary Haemochromatosis (HHC) see haemochromatosis
Hereditary Tyrosinaemias see tyrosinaemia
HexA deficiency see Tay-Sachs disease
Hexosaminidase A and B Deficiency Disease see Sandhoff disease
Hexosaminidase A deficiency see Tay-Sachs disease
Hexosaminidase activator deficiency see GM2-gangliosidosis, AB variant
Hexosaminidase alpha-subunit deficiency (variant B) see Tay-Sachs disease
HFE-associated haemochromatosis see haemochromatosis
HGPS see Hutchinson-Gilford progeria syndrome
HLAH see haemochromatosis
HLCS deficiency see holocarboxylase synthetase deficiency
HMG-CoA lyase deficiency see 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
holocarboxylase synthetase deficiency
homocystinuria
Homogentisic acid oxidase deficiency see alkaptonuria
Homogentisic acidura see alkaptonuria
Homozygous porphyria cutanea tarda see hepatoerythropoietic porphyria
HP1 see primary hyperoxaluria
HP2 see primary hyperoxaluria
Hutchinson-Gilford progeria syndrome
3-hydroxy-3-methylglutaryl-CoA lyase deficiency
3-hydroxyacyl-CoA dehydrogenase, long chain, deficiency see long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
Hydroxymethylbilane synthase deficiency see acute intermittent porphyria
Hydroxymethylglutaric aciduria see 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
Hyperchylomicronemia, Familial see familial lipoprotein lipase deficiency
hyperglycinemia with ketoacidosis and leukopenia see propionic acidaemia
Hyperlipoproteinemia Type I see familial lipoprotein lipase deficiency
Hyperoxaluria, Primary see primary hyperoxaluria
Hyperphenylalaninemia caused by a defect in biopterin metabolism see tetrahydrobiopterin deficiency
Hyperphenylalaninemia, Non-Phenylketonuric see tetrahydrobiopterin deficiency
Hypertyrosinaemia see tyrosinaemia
Hypocupremia, Congenital see Menkes syndrome
idiopathic haemochromatosis see haemochromatosis, type 3
Idiopathic neonatal haemochromatosis see haemochromatosis, neonatal
Infantile cerebral Gaucher's disease see Gaucher disease, type 2
Infantile Gaucher Disease see Gaucher disease, type 2
Infantile Multiple Carboxylase Deficiency see holocarboxylase synthetase deficiency
Intermittent acute porphyria syndrome see acute intermittent porphyria
Iron storage disorder see haemochromatosis
isovaleric acidaemia
Isovaleryl-CoA dehydrogenase deficiency see isovaleric acidaemia
IVD deficiency see isovaleric acidaemia
JH see haemochromatosis, type 2
Kerasin histiocytosis see Gaucher disease
Kerasin lipoidosis see Gaucher disease
Kerasin thesaurismosis see Gaucher disease
Ketoacidaemia see maple syrup urine disease
3-Ketothiolase deficiency see beta-ketothiolase deficiency
ketotic glycinemia see propionic acidaemia
ketotic hyperglycinemia see propionic acidaemia
Kinky Hair Syndrome see Menkes syndrome
Krabbe disease
late-onset Krabbe disease (LOKD) see Krabbe disease
LCHAD deficiency see long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
Leukodystrophy, spongiform see Canavan disease
Lipase D deficiency see familial lipoprotein lipase deficiency
LIPD deficiency see familial lipoprotein lipase deficiency
Lipoid histiocytosis (kerasin type) see Gaucher disease
Lipoprotein Lipase Deficiency, Familial see familial lipoprotein lipase deficiency
Liver form of carnitine palmitoyltransferase deficiency see carnitine palmitoyltransferase I deficiency
long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
MAD - Multiple acyl-CoA dehydrogenase deficiency see glutaric acidaemia type II
MADD see glutaric acidaemia type II
Malonic aciduria see malonyl-CoA decarboxylase deficiency
malonyl-CoA decarboxylase deficiency
maple syrup urine disease
MAT deficiency see beta-ketothiolase deficiency
MCAD deficiency see medium-chain acyl-coenzyme A dehydrogenase deficiency
MCADD see medium-chain acyl-coenzyme A dehydrogenase deficiency
MCADH deficiency see medium-chain acyl-coenzyme A dehydrogenase deficiency
3-MCC see 3-methylcrotonyl-CoA carboxylase deficiency
MCC deficiency see 3-methylcrotonyl-CoA carboxylase deficiency
MCD deficiency see malonyl-CoA decarboxylase deficiency
medium-chain acyl-coenzyme A dehydrogenase deficiency
Menkea syndrome see Menkes syndrome
Menkes syndrome
3-methylcrotonyl-CoA carboxylase deficiency
Methylcrotonyl-CoA carboxylase deficiency see 3-methylcrotonyl-CoA carboxylase deficiency
3-methylcrotonylglycinuria see 3-methylcrotonyl-CoA carboxylase deficiency
3-Methylhydroxybutyric acidaemia see beta-ketothiolase deficiency
methylmalonic acidaemia
Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency - potassium stimulated see beta-ketothiolase deficiency
Mitochondrial acetoacetyl-CoA thiolase deficiency see beta-ketothiolase deficiency
mitochondrial trifunctional protein deficiency
MK - Menkes syndrome see Menkes syndrome
MMA see methylmalonic acidaemia
MNK - Menkes syndrome see Menkes syndrome
MSUD see maple syrup urine disease
MTP deficiency see mitochondrial trifunctional protein deficiency
Multiple Carboxylase Deficiency, Late-Onset see biotinidase deficiency
Multiple Carboxylase Deficiency, Neonatal Form see holocarboxylase synthetase deficiency
Muscle form of carnitine palmitoyltransferase deficiency see carnitine palmitoyltransferase II deficiency
Non-neuroneopathic Gaucher Disease see Gaucher disease, type 1
Non-Phenylketonuric Hyperphenylalaninemia see tetrahydrobiopterin deficiency
Norrbottnian Gaucher disease see Gaucher disease, type 3
Ochronosis see alkaptonuria
Ochronotic arthritis see alkaptonuria
3-OH 3-CH3 glutaric aciduria see 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
Oxalosis see primary hyperoxaluria
Oxaluria, Primary see primary hyperoxaluria
PBGD deficiency see acute intermittent porphyria
PCC deficiency see propionic acidaemia
PCT see porphyria cutanea tarda
peroxisomal alanine:glyoxylate aminotransferase deficiency see primary hyperoxaluria
Phenylalanine Hydroxylase Deficiency Disease see phenylketonuria
phenylketonuria
Pigmentary cirrhosis see haemochromatosis
PKU see phenylketonuria
Plumboporphyria see ALAD deficiency porphyria
Porphobilinogen deaminase deficiency see acute intermittent porphyria
Porphobilinogen synthase deficiency see ALAD deficiency porphyria
porphyria
porphyrin disorder see porphyria
PPOX deficiency see variegate porphyria
Prader-Labhart-Willi syndrome see Prader-Willi syndrome
Prader-Willi syndrome
primary carnitine deficiency
Primary Haemochromatosis see haemochromatosis
primary hyperoxaluria
Progeria see Hutchinson-Gilford progeria syndrome
propionic acidaemia
propionyl-CoA carboxylase deficiency see propionic acidaemia
Protoporphyria see erythropoietic protoporphyria
Protoporphyrinogen oxidase deficiency see variegate porphyria
pseudo-Gaucher disease see Gaucher-like disease
psychosine lipidosis see Krabbe disease
PWS see Prader-Willi syndrome
Pyrroloporphyria see acute intermittent porphyria
Renal carnitine transport defect see primary carnitine deficiency
Sandhoff disease
South African genetic porphyria see variegate porphyria
Sphingolipidosis, Tay-Sachs see Tay-Sachs disease
Spongy degeneration of central nervous system see Canavan disease
Spongy degeneration of the brain see Canavan disease
Spongy degeneration of white matter in infancy see Canavan disease
Stale fish syndrome see trimethylaminuria
Steely Hair Syndrome see Menkes syndrome
Swedish genetic porphyria see acute intermittent porphyria
Swedish porphyria see acute intermittent porphyria
Systemic carnitine deficiency see primary carnitine deficiency
T2 deficiency see beta-ketothiolase deficiency
Tay-Sachs disease
Tay-Sachs Disease, AB Variant see GM2-gangliosidosis, AB variant
tetrahydrobiopterin deficiency
TFP deficiency see mitochondrial trifunctional protein deficiency
TMAU see trimethylaminuria
Total hexosaminidase deficiency see Sandhoff disease
TPA deficiency see mitochondrial trifunctional protein deficiency
trifunctional protein deficiency, type 1 see long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
trifunctional protein deficiency, type 2 see mitochondrial trifunctional protein deficiency
trimethylaminuria
Troisier-Hanot-Chauffard syndrome see haemochromatosis
TSD see Tay-Sachs disease
Type 2 Gaucher Disease see Gaucher disease, type 2
Type 3 Gaucher Disease see Gaucher disease, type 3
tyrosinaemia
UDP-Galactose-4-Epimerase Deficiency Disease see galactosaemia
UDPglucose 4-Epimerase Deficiency Disease see galactosaemia
UDPglucose Hexose-1-Phosphate Uridylyltransferase Deficiency see galactosaemia
UPS deficiency see acute intermittent porphyria
UROD deficiency see porphyria cutanea tarda
Uroporphyrinogen decarboxylase deficiency see porphyria cutanea tarda
Uroporphyrinogen synthase deficiency see acute intermittent porphyria
UROS deficiency see congenital erythropoietic porphyria
UTP Hexose-1-Phosphate Uridylyltransferase Deficiency see galactosaemia
Van Bogaert-Bertrand syndrome see Canavan disease
variegate porphyria
very long-chain acyl-coenzyme A dehydrogenase deficiency
VLCAD-C see very long-chain acyl-coenzyme A dehydrogenase deficiency
VLCAD deficiency see very long-chain acyl-coenzyme A dehydrogenase deficiency
VLCAD-H see very long-chain acyl-coenzyme A dehydrogenase deficiency
Von Bogaert-Bertrand disease see Canavan disease
Von Recklenhausen-Applebaum disease see haemochromatosis
VP see variegate porphyria
WD - Wilson's disease see Wilson disease
Wilson disease
X-linked copper deficiency see Menkes syndrome

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