MCID: 3HY003
MIFTS: 13

3-Hydroxy-3-Methylglutaryl-Coenzyme a Lyase Deficiency

Categories: Genetic diseases

Aliases & Classifications for 3-Hydroxy-3-Methylglutaryl-Coenzyme a Lyase Deficiency

MalaCards integrated aliases for 3-Hydroxy-3-Methylglutaryl-Coenzyme a Lyase Deficiency:

Name: 3-Hydroxy-3-Methylglutaryl-Coenzyme a Lyase Deficiency 24
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency 24
3-Hydroxy-3-Methylglutaryl-Coenzyme a Lyase 13
Hmg-Coa Lyase Deficiency 24
Hmg Coa Lyase Deficiency 69

Classifications:



Summaries for 3-Hydroxy-3-Methylglutaryl-Coenzyme a Lyase Deficiency

MalaCards based summary : 3-Hydroxy-3-Methylglutaryl-Coenzyme a Lyase Deficiency, also known as 3-hydroxy-3-methylglutaryl-coa lyase deficiency, is related to hmg-coa lyase deficiency and retinitis pigmentosa. An important gene associated with 3-Hydroxy-3-Methylglutaryl-Coenzyme a Lyase Deficiency is HMGCL (3-Hydroxymethyl-3-Methylglutaryl-CoA Lyase). Affiliated tissues include heart.

Related Diseases for 3-Hydroxy-3-Methylglutaryl-Coenzyme a Lyase Deficiency

Diseases related to 3-Hydroxy-3-Methylglutaryl-Coenzyme a Lyase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 hmg-coa lyase deficiency 11.4
2 retinitis pigmentosa 10.1
3 cerebritis 10.1
4 retinitis 10.1
5 encephalopathy 10.1

Graphical network of the top 20 diseases related to 3-Hydroxy-3-Methylglutaryl-Coenzyme a Lyase Deficiency:



Diseases related to 3-Hydroxy-3-Methylglutaryl-Coenzyme a Lyase Deficiency

Symptoms & Phenotypes for 3-Hydroxy-3-Methylglutaryl-Coenzyme a Lyase Deficiency

Drugs & Therapeutics for 3-Hydroxy-3-Methylglutaryl-Coenzyme a Lyase Deficiency

Search Clinical Trials , NIH Clinical Center for 3-Hydroxy-3-Methylglutaryl-Coenzyme a Lyase Deficiency

Genetic Tests for 3-Hydroxy-3-Methylglutaryl-Coenzyme a Lyase Deficiency

Genetic tests related to 3-Hydroxy-3-Methylglutaryl-Coenzyme a Lyase Deficiency:

id Genetic test Affiliating Genes
1 3-Hydroxy-3-Methylglutaryl-Coenzyme a Lyase Deficiency 24 HMGCL

Anatomical Context for 3-Hydroxy-3-Methylglutaryl-Coenzyme a Lyase Deficiency

MalaCards organs/tissues related to 3-Hydroxy-3-Methylglutaryl-Coenzyme a Lyase Deficiency:

39
Heart

Publications for 3-Hydroxy-3-Methylglutaryl-Coenzyme a Lyase Deficiency

Articles related to 3-Hydroxy-3-Methylglutaryl-Coenzyme a Lyase Deficiency:

(show all 27)
id Title Authors Year
1
3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients. ( 28583327 )
2017
2
Management and long-term evolution of a patient with 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency. ( 28257639 )
2017
3
3-Hydroxy-3-methylglutaric and 3-methylglutaric acids impair redox status and energy production and transfer in rat heart: relevance for the pathophysiology of cardiac dysfunction in 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency. ( 27430492 )
2016
4
3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: initial presentation in a young adult. ( 19242819 )
2009
5
3-Hydroxy-3-methylglutaryl coenzyme a lyase deficiency with reversible white matter changes after treatment. ( 17628222 )
2007
6
A rare cause of hepatomegaly: 3-hydroxy-3-methylglutaryl coenzyme-a lyase deficiency. ( 11593134 )
2001
7
MR imaging and proton spectroscopy in 3-hydroxy-3-methylglutaryl coenzyme A lyase deficiency. ( 9504498 )
1998
8
Stroke-like encephalopathy in an infant with 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency. ( 9776534 )
1998
9
The long-term evolution of a case of 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency associated with deafness and retinitis pigmentosa. ( 9427155 )
1997
10
CT and MR of 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency. ( 7985564 )
1994
11
3-Hydroxy-3-methylglutaryl coenzyme A lyase deficiency. ( 8127067 )
1993
12
Cerebral MRI in 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: case report. ( 8232893 )
1993
13
[3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency as a cause of severe neurological damage]. ( 1302289 )
1992
14
Increased plasma amylase in the family of a patient with 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency. ( 1371725 )
1992
15
[Sudden death of a patient with 3-hydroxy-3-methylglutaryl coenzyme A lyase deficiency]. ( 1971743 )
1990
16
Rapid diagnosis of 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency via enzyme activity measurements in leukocytes or platelets using a simple spectrophotometric method. ( 2225463 )
1990
17
3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: biochemical studies and family investigation of four generations. ( 2116546 )
1990
18
3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency. ( 2515384 )
1989
19
3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: review of 18 reported patients. ( 3063529 )
1988
20
3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: report of five new patients. ( 3128690 )
1988
21
A new case of 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency. ( 3126361 )
1987
22
Identification of 3-methylglutarylcarnitine. A new diagnostic metabolite of 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency. ( 3958190 )
1986
23
3-Hydroxy-3-methylglutaryl-coenzyme a lyase deficiency: a review. ( 3099065 )
1986
24
Genetic complementation analysis of 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency in cultured fibroblasts. ( 6475954 )
1984
25
Potential prenatal diagnosis of 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency. ( 6112083 )
1981
26
3-Hydroxy-3-methylglutaryl coenzyme A lyase deficiency. Follow-up of first described case. ( 6112838 )
1981
27
3-hydroxy-3-methylglutaryl coenzyme A lyase deficiency: postnatal management following prenatal diagnosis by analysis of maternal urine. ( 91680 )
1979

Variations for 3-Hydroxy-3-Methylglutaryl-Coenzyme a Lyase Deficiency

Expression for 3-Hydroxy-3-Methylglutaryl-Coenzyme a Lyase Deficiency

Search GEO for disease gene expression data for 3-Hydroxy-3-Methylglutaryl-Coenzyme a Lyase Deficiency.

Pathways for 3-Hydroxy-3-Methylglutaryl-Coenzyme a Lyase Deficiency

GO Terms for 3-Hydroxy-3-Methylglutaryl-Coenzyme a Lyase Deficiency

Sources for 3-Hydroxy-3-Methylglutaryl-Coenzyme a Lyase Deficiency

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