Alkaptonurie
Alkaptonuria
- Alkaptonuria
Synoniemen: AKU; Homogentisic acid oxidase deficiency; Homogentisaat-1,2-dioxigenase
deficiëntie
OMIM:
203500
OMIM:
Clinical Synopsis
e-Medicine:
Alkaptonuria
ExPASy: Homogentisate 1,2-dioxygenase;
EC 1.13.11.5
Synoniemen voor dit enzym: Homogentisicase, Homogentisate
oxygenase, Homogentisic acid oxidase
Homogentisate + O2 <=>
4-maleylacetoacetate
L-2-α-Hydroxyglutaar
acidemie
L-2-α-Hydroxyglutaricacidemia
- L-2-α-Hydroxyglutaricacidemia
OMIM:
236792
OMIM:
Clinical Synopsis
D-2-α-Hydroxyglutaar acidurie:
D-2-α-Hydroxyglutaricaciduria
- D-2-α-Hydroxyglutaricaciduria
OMIM:
600721
OMIM:
Clinical Synopsis
Vertakte-keten organo-acidurieën:
Stoornissen betreffende de afbraak van Leucine:
- Isovaleric acidemia; IVA
( Isovaleriaan acidurie IVA )
Synoniemen:
Isovaleric acid-CoA
Dehydrogenase Deficiency; IVD Deficiency
OMIM:
243500
OMIM:
clinical synopsis
ExPASy:
Isovaleryl-CoA dehydrogenase;
EC 1.3.99.10
3-methylbutanoyl-CoA + ETF <=>
3-methylbut-2-enoyl-CoA + reduced ETF
- Isolated deficiency of
3-Methyl crotonyl CoA Carboxylase
( 3-a-Methyl crotonyl CoA
Carboxylase 1 deficiency )
Synoniemen:
3-a-methylcrotonylglycinuria I
OMIM:
210200
OMIM:
clinical synopsis
Extra informatie:
Methylcrotonyl-CoA carboxylase
ExPASy:
Methylcrotonyl-CoA carboxylase;
EC 6.4.1.4
Enzym synoniem:
Beta-methylcrotonyl-CoA carboxylase
ATP +
3-methylcrotonyl-CoA + HCO3- <> ADP +
phosphate + 3-methylglutaconyl-CoA
-
3-Methylglutaconic Aciduria
( 3-Methylglutacon acidurie );
Type I, Type II , Type III and Type IV
3-α-Methylglutaconicaciduria Type I
( 3-Methylglutacon acidurie )
Synoniemen:
3-α-Methylglutaconyl-CoA
Hydratase Deficiency; 3-α-MG CoA Hydratase
deficiency;
3-α-methylglutaconicaciduria
type I
OMIM:
250950
OMIM:
Clinical Synopsis
ExPASy:
Methylglutaconyl-CoA hydratase;
EC 4.2.1.18
(S)-3-hydroxy-3-methylglutaryl-CoA <=>
trans-3-methylglutaconyl-CoA + H2O
3-α-Methylglutaconicaciduria Type
II ( BARTH SYNDROME )
Synoniemen: Cardioskeletal Myopathy
with Neutropenia and abnormal mitochondria, MGA Type II
OMIM:
302060
OMIM:
Clinical Synopsis
Extra Informatie:
Barth Syndroom
3-α-Methylglutaconicaciduria Type III
(
Costeff optic atrophy syndrome )
Synoniemen: MGA3; Optic Atrophy Plus
Syndrome
OMIM:
258501
OMIM:
Clinical Synopsis
Who named it?:
Hanan Costeff
3-α-Methylglutaconicaciduria Type
III
"Unclassified" with
Normal 3-Methylglutaconyl-CoA Hydratase Levels
Synoniemen: MGA Type IV
OMIM:
250951
OMIM:
Clinical Synopsis
-
3-α-Hydroxy-3-methylglutaryl-CoA
Lyase Deficiency
Synoniemen:
HMG-CoA Lyase Deficiency; HL Deficiency;
Hydroxymethylglutaricaciduria
OMIM:
246450
OMIM:
Clinical Synopsis
ExPASy:
Hydroxymethylglutaryl-CoA lyase;
EC 4.1.3.4
Synoniemen voor dit enzym: 3-hydroxy-3-methylglutarate-CoA lyase,
HMG-CoA lyase.
(S)-3-hydroxy-3-methylglutaryl-CoA <=>
acetyl-CoA + acetoacetate
-
Mevalonic Aciduria ( Mevalonaat Acidurie )
Synoniemen:
Mevalonate Kinase
Deficiency
OMIM:
251170
OMIM:
Clinical Synopsis
ExPASy:
Mevalonate kinase;
EC 2.7.1.36
Human Genetic Disorders:
Mevalonicaciduria ;
Hyper-IgD syndrome (HIDS)
ATP + (R)-mevalonate <=> ADP +
(R)-5-phosphomevalonate
Vertakte-keten organo-acidurieën:
Stoornissen betreffende de afbraak
van Isoleucine:
-
Mitochondrial acetoacetyl-CoA thiolase deficiency
( Alpha-methylacetoaceticaciduria )
OMIM:
203750
OMIM:
Clinical Synopsis
ExPASy:
Acetyl-CoA C-acetyltransferase;
EC 2.3.1.9
Enzym synoniemen:
Acetoacetyl-CoA thiolase
2 acetyl-CoA <=> CoA +
acetoacetyl-CoA
- Propionic
acidemia
propion-acidemieën
-
Methylmalonic
acidemia
methylmalonzuur acidemie
Stoornissen betreffende de afbraak van
Valine:
-
3-Hydroxyisobutyryl-CoA Deacylase Deficiency (
Methacrylicaciduria )
Synoniemen: Beta-hydroxyisobutyryl-CoA Deacylase deficiency; valine
metabolic defect
OMIM:
250620
OMIM:
Clinical Synopsis
-
3-α-Hydroxyisobutyric
Aciduria
OMIM:
236795
OMIM:
Clinical Synopsis
- isolated
isobutyryl-CoA dehydrogenase deficiency
-
Methylmalonic Semialdehyde Dehydrogenase Deficiency
-
Ethylmalonic Aciduria Encephalopathy
-
Malonic Aciduria: Malonyl-CoA Decarboxylase Deficiency
Ziekten
van het propionaat en methylmalonaat metabolisme:
De propion-acidemieën:
-
Propionicacidemia (
Propion-acidemie
)
Synoniemen:
Propionyl-CoA-Carboxylase Deficiency; PCC Deficiency; Ketotic
Glycinemia; Hyperglycinemia with Ketoacidosis and Leukopenia;
Ketotic Hyperglycinemia
OMIM:
606054
OMIM:
Clinical Synopsis
e-Medicine:
Propionic Acidemia (Propionyl CoA Carboxylase Deficiency)
ExPASy: Propionyl-CoA carboxylase;
EC 6.4.1.3
Enzym
synoniemen: PCCase
ATP + propanoyl-CoA + HCO3-
< = > ADP + phosphate + (S)-methylmalonyl-CoA
-
Multiple Carboxylase Deficiency
( MCD )
Synoniemen: Holocarboxylase
Synthetase Deficiency; HLCS Deficiency; Multiple Carboxylase
Deficiency, Neonatal Form
OMIM:
253270
OMIM:
Clinical Synopsis
e-Medicine:
Holocarboxylase Synthetase Deficiency
ExPASy: Biotin--[propionyl-CoA-carboxylase (ATP-hydrolyzing)]
ligase;
EC 6.3.4.10
Enzym synoniemen: Biotin--[propionyl-CoA-carboxylase
(ATP-hydrolyzing)] synthetase; Propionyl-CoA holocarboxylase
synthetase; Holocarboxylase synthetase
ATP + biotin + apo-[propanoyl-CoA:carbon-dioxide
ligase (ADP-forming)] <=>
AMP + diphosphate + [propanoyl-CoA:carbon-dioxide ligase (ADP-forming)]
De methylmalonzuur acidemieën:
Extra informatie:
Methylmalonzuur acidemie
Extra informatie: e-Medicine:
Methylmalonic Acidemia
-
Methylmalonicaciduria due to Methylmalonyl CoA Mutase Deficiency
Synoniemen:
Methylmalonic
aciduria due to MCM Deficiency;
MCM
Deficiency; MMA due to MCM deficiency; Complementation Group
mut
OMIM:
251000
OMIM:
Clinical Synopsis
ExPASy: Methylmalonyl-CoA mutase
EC 5.4.99.2
Enzym synoniemen: Methylmalonyl-CoA CoA-carbonyl mutase,
Methylmalonyl coenzyme A mutase, Methylmalonyl coenzyme A
carbonylmutase, (S)-methylmalonyl-CoA mutase,
(R)-2-methyl-3-oxopropanoyl-CoA CoA-carbonylmutase.
(R)-2-methyl-3-oxopropanoyl-CoA < = >
succinyl-CoA
- Partial deficiency of
Methylmalonyl CoA Mutase:
cblA, cblB and cblH
cblA:
(
Methylmalonicaciduria, Vitamin
B12 responsive, due to defect in synthesis of adenosylcobalamin )
OMIM:
251100
OMIM:
Clinical Synopsis
cblB:
(
Methylmalonicaciduria, Vitamin B12 responsive, due to defect in
synthesis of adenosylcobalamin )
OMIM:
251110
OMIM:
Clinical Synopsis
cblH:
( Methylmalonicaciduria, Vitamin B12
responsive, due to defect in synthesis of adenosylcobalamin )
OMIM:
606169
-
Combined Deficiency of Methylmalonyl CoA Mutase and Methionine
Synthase:
cblC; cblD and cblF
cblC: Vitamin B12 metabolic defect with
methylmalonicacidemia and homocystinuria
Synoniemen:
Combined
Deficiency of Methylmalonyl CoA Mutase and
Homocysteine: Methyltetrahydrofolate
Methyltransferase
OMIM:
277400
OMIM:
Clinical Synopsis
cblD: Vitamin B12 metabolic defect, Type II
Synoniemen: Methylmalonicacidemia
and Homocystinuria; cbl D
OMIM:
277410
OMIM:
Clinical Synopsis
cblF: Vitamin B12 Lysosomal Release
Defect
Synoniemen: Defect in lysosomal release of
cobalamin; Vitamin B12 storage disease; Cobalamin F disease;
Methylmalonicaciduria due to vitamin B12 release defect
OMIM:
277380
OMIM:
Clinical Synopsis
Organo-acidurie vanwege defecten in de Lysine oxidatie:
-
Glutaricacidemia I
( glutaar acidurie type 1 )
Synoniemen:
Glutaricaciduria; GA I; Glutaryl-CoA Dehydrogenase Deficiency
OMIM:
231670
OMIM:
Clinical Synopsis
ExPASy: Glutaryl-CoA dehydrogenase
EC 1.3.99.7
Glutaryl-CoA + acceptor < = > crotonoyl-CoA
+ CO2 + reduced acceptor
-
Ketoadipicaciduria
OMIM:
245130
OMIM:
Clinical Synopsis
Disorders of the γ-Glutamyl Cycle:
-
5-Oxoprolinuria
Synoniemen: Glutathione Synthetase
deficiency; Pyroglutamicaciduria
OMIM:
266130
OMIM:
Clinical Synopsis
e-Medicine:
Glutathione Synthetase Deficiency
OMIM:
Glutathione Synthetase
ExPASy:
Glutathione
Synthase;
EC 6.3.2.3
Synoniemen voor dit enzym: Glutathione synthetase, GSH synthetase
ATP + gamma-L-glutamyl-L-cysteine
+ glycine < = > ADP + phosphate + glutathione
- Hemolytic Anemia due to Glutathione
Synthetase Deficiency of Erythrocytes
OMIM:
231900
OMIM:
Clinical Synopsis
- Hemolytic Anemia due to
Gamma-Glutamylcysteine Synthetase Deficiency
OMIM:
230450
OMIM:
Clinical Synopsis
OMIM:
Gamma-glutamylcysteine synthetase
ExPASy: Glutamate--cysteine ligase
EC 6.3.2.2
Enzym synoniemen:
Gamma-glutamylcysteine synthetase; Gamma-glutamyl-L-cysteine
synthetase
ATP + L-glutamate + L-cysteine < =
> ADP + phosphate + gamma-L-glutamyl-L-cysteine
-
Gluthationuria
Synoniemen: Gamma-Glutamyl
Transpeptidase deficiency; Gamma-Glutamyl Transferase Deficiency;
GGT Deficiency; GGT1 Deficiency; GTG Deficiency
OMIM:
231950
OMIM:
Clinical Synopsis
ExPASy:
Gamma-glutamyltransferase
EC 2.3.2.2
Enzym synoniemen:
Gamma-glutamyltranspeptidase; Glutamyl transpeptidase
(5-L-glutamyl)-peptide + an amino
acid <=> peptide + 5-L-glutamyl-amino acid
-
5-Oxoprolinase Deficiency
Synoniemen: Oxoprolinuria
due to Oxoprolinase Deficiency
OMIM:
260005
OMIM:
Clinical Synopsis
Stoornissen van de Glycerol stofwisseling:
-
Hyperglycerolemia
Synoniemen: Glycerol Kinase
Deficiency; GK Deficiency; GKD; GK1 Deficiency
OMIM:
307030
OMIM:
Clinical Synopsis
ExPASy: Glycerol kinase
EC 2.7.1.30
Enzym synoniemen: Glycerokinase; ATP:glycerol
3-phosphotransferase
ATP + glycerol < = > ADP + glycerol
3-phosphate
- Glycerol
Intolerance Syndrome
Sjögren-Larsson
Syndrome: Fatty Aldehyde Dehydrogenase Deficiency:
- Sjögren - Larsson Syndrome
Synoniemen: SLS;
OMIM:
270200
OMIM:
Clinical Synopsis
Who named it?:
Karl Gustaf Torsten Sjögren,
Tage Konrad Leopold Larsson
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