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Glutaric aciduria type II
LE WE PMID CA
Glutaric aciduria type II7715Glutaric Aciduria type II

3 Hydroxyglutaric acid

ACAA2 MCKAT medium chain 3 ketoacyl CoA thiolase

ACAD9

ACADM MCAD Medium chain acyl CoA dehydrogenase deficiency

ACADS SCAD short chain acyl CoA dehydrogenase

ACADVL VLCAD Very long chain acyl CoA synthetase

ACC1 Acetyl CoA carboxylase1

AMP activated protein kinase

ATFB ETF electron transfer flavoprotein

beta oxidation

Carnitine shuttle

CPT1 Carnitine palmitoyltransferase

CPT1a

CPT1b

CPT2 Carnitine plamitoyl transferase2

CRAT Carnitine acetyltransferase

DCI Dodecenoly CoA delta isomerase 3 2 trans enoyl CoA isomerase

DECR1 2 4 dienoyl CoA reductase1

ECHS1 Ctotonase Enoyl CoA hydratase

ETFA ETF electron transfer flavoprotein

ETFDH ETF dehydrogenase

FABP1 L FABP

FABP3

Glutaconic acid

Glutaric Aciduria type I

Glutaric aciduria type II

Glutaryl CoA dehydrogenase

Glutarylcarnitine

GOT2 Aspartate aminotransferase FABPpm

HADH MSCHAD medium and short chain hydoxyacyl CoA dehydrogenase

HADHA HADHB MTP mitochondrial trifunctional protein

Muscle (Diseases)

PDK pyruvate dehydrogenase kinase

Pompe s disease GSDII

Primary carnitine deficiency

Pyruvate dehydrogenase phosphatase

Pyruvate dehydrogenase

SLC22A5 OCTN2 organic cation transporter2 Carnitine

SLC25A2 CACT Carnitine acylcarnitine translocase

SLC27A1 FATP1

SLC27A5 FATP5

SLC27A6 FATP6

2008  
1
Two eminently treatable genetic metabolic myopathies.
[18974560] Neurol India 56(3): 333-8 (2008)
2009  
2
L-2-Hydroxyglutaric aciduria: pattern of MR imaging abnormalities in 56 patients.
[19474378] Radiology 251(3): 856-65 (2009)
2011  
3
Diagnosis and management of glutaric aciduria type I--revised recommendations.
[21431622] J Inherit Metab Dis 34(3): 677-94 (2011)
2010  
4
A general introduction to the biochemistry of mitochondrial fatty acid β-oxidation.
[20195903] J Inherit Metab Dis 33(5): 469-77 (2010)

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