MLYCD DEFICIENCY
MCID: MLN011
MIFTS: 38

Malonyl-Coa Decarboxylase Deficiency (MLYCD DEFICIENCY)

Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Malonyl-Coa Decarboxylase Deficiency

MalaCards integrated aliases for Malonyl-Coa Decarboxylase Deficiency:

Name: Malonyl-Coa Decarboxylase Deficiency 56 74 52 25 58 73 36 13 54 39
Malonic Aciduria 52 25 58 71
Deficiency of Malonyl-Coa Decarboxylase 25 29 6
Malonic Acidemia 52 71
Mcd Deficiency 52 25
Malonyl-Coenzyme a Decarboxylase Deficiency 25
Mlycd Deficiency 73
Malonicaciduria 52

Characteristics:

Orphanet epidemiological data:

58
malonic aciduria
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
symptoms may be precipitated by infection


HPO:

31
malonyl-coa decarboxylase deficiency:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Inborn errors of metabolism


Summaries for Malonyl-Coa Decarboxylase Deficiency

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 943 Definition Malonic aciduria is a metabolic disorder caused by deficiency of malonyl-CoA decarboxylase (MCD). Epidemiology It is a very rare disorder that has been described in less than 20 patients. Clinical description This condition usually presents in early childhood and the manifestations are variable. The majority of patients are developmentally delayed with other features that include hypotonia , seizures , hypoglycaemia, metabolic acidosis, cardiomyopathy and diarrhoea. Etiology The disease is caused by mutations in the malonyl-CoA decarboxylase gene (MLYCD , chromosome 16q24) and is inherited as an autosomal recessive trait . The MCD enzyme is involved in the degradation of malonyl-CoA and it appears that inhibition of fatty acid synthesis as a result of malonyl-CoA accumulation is responsible for at least some of the clinical manifestations of the disorder. Diagnostic methods The diagnosis of malonic aciduria can be made by detecting elevated levels of organic acids (in particular malonic and methylmalonic acid) in the urine and high levels of malonylcarnitine in the blood. The diagnosis is confirmed by demonstrating reduced enzyme activity in cultured skin fibroblasts . Identification of the MLYCD gene mutation may also be useful for diagnosis and for genetic counselling. Antenatal diagnosis Screening of newborns may be possible through detection of elevated blood levels of malonylcarnitine using electrospray ionisation tandem mass spectrometry (ESI-MS/MS). Prenatal screening is theoretically possible through enzyme or DNA analysis of amniocytes or chorionic villus samples. Management and treatment The principle treatment is dietary, with patients being recommended to follow a low fat/high carbohydrate diet. Carnitine supplements may also be recommended. Prognosis The prognosis for patients is variable but the disease can be lethal in the neonatal period. Visit the Orphanet disease page for more resources.

MalaCards based summary : Malonyl-Coa Decarboxylase Deficiency, also known as malonic aciduria, is related to atrial standstill 1 and autosomal recessive disease, and has symptoms including seizures, vomiting and abdominal pain. An important gene associated with Malonyl-Coa Decarboxylase Deficiency is MLYCD (Malonyl-CoA Decarboxylase), and among its related pathways/superpathways are beta-Alanine metabolism and Propanoate metabolism. Affiliated tissues include brain, heart and skin, and related phenotypes are pachygyria and seizures

Genetics Home Reference : 25 Malonyl-CoA decarboxylase deficiency is a condition that prevents the body from converting certain fats to energy. The signs and symptoms of this disorder typically appear in early childhood. Almost all affected children have delayed development. Additional signs and symptoms can include weak muscle tone (hypotonia), seizures, diarrhea, vomiting, and low blood sugar (hypoglycemia). A heart condition called cardiomyopathy, which weakens and enlarges the heart muscle, is another common feature of malonyl-CoA decarboxylase deficiency.

OMIM : 56 Malonyl-CoA decarboxylase deficiency is an uncommon inherited metabolic disease. The characteristic phenotype is variable, but may include developmental delay in early childhood, seizures, hypotonia, diarrhea, vomiting, metabolic acidosis, hypoglycemia, ketosis, abnormal urinary compounds, lactic acidemia, and hypertrophic cardiomyopathy (Sweetman and Williams, 2001). (248360)

KEGG : 36 Malonyl-CoA decarboxylase deficiency is a rare autosomal recessive disease characterized by developmental delay, seizure, hypoglycemia, cardiomyopathy and malonic aciduria. Malonyl-CoA decarboxylase (MCD) is an enzyme involved in the metabolism of fatty acids synthesis and is important in muscle and brain metabolism. Mutations in MLYCD gene that encodes MCD, result in a deficiency of MCD activity.

UniProtKB/Swiss-Prot : 73 Malonyl-CoA decarboxylase deficiency: Autosomal recessive disease characterized by abdominal pain, chronic constipation, episodic vomiting, metabolic acidosis and malonic aciduria.

Wikipedia : 74 Malonyl-CoA decarboxylase deficiency (MCD), is an autosomal-recessive metabolic disorder caused by a... more...

Related Diseases for Malonyl-Coa Decarboxylase Deficiency

Graphical network of the top 20 diseases related to Malonyl-Coa Decarboxylase Deficiency:



Diseases related to Malonyl-Coa Decarboxylase Deficiency

Symptoms & Phenotypes for Malonyl-Coa Decarboxylase Deficiency

Human phenotypes related to Malonyl-Coa Decarboxylase Deficiency:

31 (show all 16)
# Description HPO Frequency HPO Source Accession
1 pachygyria 31 occasional (7.5%) HP:0001302
2 seizures 31 HP:0001250
3 muscular hypotonia 31 HP:0001252
4 constipation 31 HP:0002019
5 global developmental delay 31 HP:0001263
6 short stature 31 HP:0004322
7 vomiting 31 HP:0002013
8 hypertrophic cardiomyopathy 31 HP:0001639
9 hypoglycemia 31 HP:0001943
10 abdominal pain 31 HP:0002027
11 generalized hypotonia 31 HP:0001290
12 lactic acidosis 31 HP:0003128
13 chronic constipation 31 HP:0012450
14 diarrhea 31 HP:0002014
15 metabolic acidosis 31 HP:0001942
16 ketosis 31 HP:0001946

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
seizures
frontotemporal atrophy
developmental delay in early childhood
white matter changes on brain imaging (less common)
pachygyria (less common)
more
Abdomen Gastrointestinal:
vomiting
abdominal pain
chronic constipation
diarrhea

Laboratory Abnormalities:
hypoglycemia
ketosis
abnormal urinary compounds
lactic acidemia
mitochondrial malonyl-coa decarboxylase activity in fibroblasts is very low (as low as 4%)

Muscle Soft Tissue:
hypotonia

Growth Height:
short stature

Cardiovascular Heart:
hypertrophic cardiomyopathy

Metabolic Features:
metabolic acidosis

Clinical features from OMIM:

248360

UMLS symptoms related to Malonyl-Coa Decarboxylase Deficiency:


seizures, vomiting, abdominal pain, chronic constipation, diarrhea

Drugs & Therapeutics for Malonyl-Coa Decarboxylase Deficiency

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Combined Malonic and Methylmalonic Aciduria (CMAMMA): Gene Identification and Outcome Study Unknown status NCT01289158

Search NIH Clinical Center for Malonyl-Coa Decarboxylase Deficiency

Genetic Tests for Malonyl-Coa Decarboxylase Deficiency

Genetic tests related to Malonyl-Coa Decarboxylase Deficiency:

# Genetic test Affiliating Genes
1 Deficiency of Malonyl-Coa Decarboxylase 29 MLYCD

Anatomical Context for Malonyl-Coa Decarboxylase Deficiency

MalaCards organs/tissues related to Malonyl-Coa Decarboxylase Deficiency:

40
Brain, Heart, Skin

Publications for Malonyl-Coa Decarboxylase Deficiency

Articles related to Malonyl-Coa Decarboxylase Deficiency:

(show all 47)
# Title Authors PMID Year
1
The molecular basis of malonyl-CoA decarboxylase deficiency. 61 54 56 6
10417274 1999
2
MCD encodes peroxisomal and cytoplasmic forms of malonyl-CoA decarboxylase and is mutated in malonyl-CoA decarboxylase deficiency. 61 6 56 54
10455107 1999
3
MLYCD mutation analysis: evidence for protein mistargeting as a cause of MLYCD deficiency. 61 6 56
12955715 2003
4
Cloning and mutational analysis of human malonyl-coenzyme A decarboxylase. 61 6 56
9869665 1999
5
Malonyl coenzyme A decarboxylase deficiency. 6 56 61
8259873 1993
6
Malonyl coenzyme A decarboxylase deficiency. 6 56
6145813 1984
7
Brain abnormalities in a case of malonyl-CoA decarboxylase deficiency. 54 56 61
16275149 2006
8
A new case of malonyl coenzyme A decarboxylase deficiency presenting with cardiomyopathy. 61 6
9177981 1997
9
Malonic aciduria and cardiomyopathy. 6 61
7609455 1993
10
Malonyl coenzyme A decarboxylase deficiency. Clinical and biochemical findings in a second child with a more severe enzyme defect. 56
3709568 1986
11
Fatal malonyl CoA decarboxylase deficiency due to maternal uniparental isodisomy of the telomeric end of chromosome 16. 54 61
17535268 2007
12
Cardiomyopathy and hypotonia in a 5-month-old infant with malonyl-coa decarboxylase deficiency: potential for preclinical diagnosis with expanded newborn screening. 61 54
16078122 2005
13
Tandem mass spectrometric determination of malonylcarnitine: diagnosis and neonatal screening of malonyl-CoA decarboxylase deficiency. 54 61
12651823 2003
14
Impaired mitochondrial fatty acid oxidative flux in fibroblasts from a patient with malonyl-CoA decarboxylase deficiency. 61 54
11461195 2001
15
Combined malonic and methylmalonic aciduria with normal malonyl-coenzyme A decarboxylase activity: a case supporting multiple aetiologies. 54 61
9700595 1998
16
Association of malonyl-CoA decarboxylase deficiency and heterozygote state for haemoglobin C disease. 54 61
7837777 1994
17
Typical or Atypical Hemolytic Uremic Syndrome and the Use of Eculizumab: 4 Illustrative Cases. 61
30933023 2019
18
Clinical, biochemical and molecular characteristics of malonyl-CoA decarboxylase deficiency and long-term follow-up of nine patients. 61
31395333 2019
19
Therapeutic plasma exchange in non-hematooncological disorders in pediatrics: A single center experience. 61
29501259 2018
20
"Classical organic acidurias": diagnosis and pathogenesis. 61
27613073 2017
21
A novel frameshift mutation of malonyl-CoA decarboxylase deficiency: clinical signs and therapy response of a late-diagnosed case. 61
28781843 2017
22
Identification and Quantitation of Malonic Acid Biomarkers of In-Born Error Metabolism by Targeted Metabolomics. 61
28315235 2017
23
Selective Screening for Organic Acidurias and Amino Acidopathies in Pakistani Children. 61
28492150 2017
24
A new case of malonyl-CoA decarboxylase deficiency with mild clinical features. 61
26858006 2016
25
Pilot Experience with an External Quality Assurance Scheme for Acylcarnitines in Plasma/Serum. 61
26898293 2016
26
Proteomic and Biochemical Studies of Lysine Malonylation Suggest Its Malonic Aciduria-associated Regulatory Role in Mitochondrial Function and Fatty Acid Oxidation. 61
26320211 2015
27
Valproate therapy exacerbating intermediate phenotype of methylmalonic aciduria. 61
26167218 2015
28
Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China. 61
25781538 2015
29
Metabolic Encephalopathy and Lipid Storage Myopathy Associated with a Presumptive Mitochondrial Fatty Acid Oxidation Defect in a Dog. 61
26664991 2015
30
Malonyl-CoA decarboxylase deficiency: long-term follow-up of a patient new clinical features and novel mutations. 61
24613099 2015
31
Malonic aciduria: long-term follow-up of new patients detected by newborn screening. 61
25233985 2014
32
A new case of malonic aciduria with a presymptomatic diagnosis and an early treatment. 61
23177061 2013
33
[A case of malonyl-CoA decarboxylase deficiency: clinical and genetic study]. 61
23146740 2012
34
A novel homozygous mutation in SUCLA2 gene identified by exome sequencing. 61
23010432 2012
35
Sani-cloth wipe mimics rare enzyme deficiency malonic aciduria on newborn screen. 61
23071203 2012
36
Novel compound heterozygous mutation of MLYCD in a Chinese patient with malonic aciduria. 61
22104738 2012
37
Use of a long-chain triglyceride-restricted/medium-chain triglyceride-supplemented diet in a case of malonyl-CoA decarboxylase deficiency with cardiomyopathy. 61
20549361 2010
38
Clinical, enzymatic and molecular characterization of nine new patients with malonyl-coenzyme A decarboxylase deficiency. 61
17186413 2007
39
Impact of feeding problems on nutritional intake and growth: Oxford Feeding Study II. 61
12162383 2002
40
Rat malonyl-CoA decarboxylase; cloning, expression in E. coli and its biochemical characterization. 61
12297032 2002
41
Malonyl CoA decarboxylase deficiency: C to T transition in intron 2 of the MCD gene. 61
11550227 2001
42
Malonic aciduria in Maltese dogs: normal methylmalonic acid concentrations and malonyl-CoA decarboxylase activity in fibroblasts. 61
10604140 1999
43
Fatal neonatal malonic aciduria. 61
9501274 1998
44
Methylmalonic and malonic aciduria in a dog with progressive encephalomyelopathy. 61
8869944 1996
45
Malonic aciduria. 61
7537025 1994
46
The origin of free brain malonate. 61
1679205 1991
47
Metabolism of malonic semialdehyde in man. 61
6418146 1983

Variations for Malonyl-Coa Decarboxylase Deficiency

ClinVar genetic disease variations for Malonyl-Coa Decarboxylase Deficiency:

6 (show top 50) (show all 81) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MLYCD NM_012213.3(MLYCD):c.560C>G (p.Ser187Ter)SNV Pathogenic 4055 rs104894528 16:83940623-83940623 16:83907018-83907018
2 MLYCD NM_012213.3(MLYCD):c.949-14A>GSNV Pathogenic 4056 16:83948547-83948547 16:83914942-83914942
3 MLYCD NM_012213.3(MLYCD):c.640_641+2deldeletion Pathogenic 4057 rs1294168838 16:83940703-83940706 16:83907098-83907101
4 MLYCD NM_012213.3(MLYCD):c.1064_1065del (p.Phe355fs)deletion Pathogenic 4058 rs1567636915 16:83948676-83948677 16:83915071-83915072
5 MLYCD NM_012213.3(MLYCD):c.8G>A (p.Gly3Asp)SNV Pathogenic 4059 rs121908081 16:83932757-83932757 16:83899152-83899152
6 MLYCD NM_012213.3(MLYCD):c.119T>C (p.Met40Thr)SNV Pathogenic 4060 rs28937908 16:83932868-83932868 16:83899263-83899263
7 MLYCD MLYCD, 25-BP DEL, NT84deletion Pathogenic 4061
8 MLYCD NC_000016.9:g.(?_83932730)_(83949114_?)deldeletion Pathogenic 584161 16:83932730-83949114 16:83899125-83915509
9 MLYCD NM_012213.3(MLYCD):c.1044G>T (p.Glu348Asp)SNV Conflicting interpretations of pathogenicity 320731 rs138675420 16:83948656-83948656 16:83915051-83915051
10 MLYCD NM_012213.3(MLYCD):c.475del (p.Ala159fs)deletion Conflicting interpretations of pathogenicity 203813 rs796051991 16:83933224-83933224 16:83899619-83899619
11 MLYCD NM_012213.3(MLYCD):c.135C>T (p.Arg45=)SNV Conflicting interpretations of pathogenicity 320721 rs767969074 16:83932884-83932884 16:83899279-83899279
12 MLYCD NM_012213.3(MLYCD):c.1098C>T (p.Ile366=)SNV Conflicting interpretations of pathogenicity 320732 rs199549095 16:83948710-83948710 16:83915105-83915105
13 MLYCD NM_012213.3(MLYCD):c.1336G>A (p.Gly446Ser)SNV Uncertain significance 320736 rs377075332 16:83948948-83948948 16:83915343-83915343
14 MLYCD NM_012213.3(MLYCD):c.1344C>T (p.Cys448=)SNV Uncertain significance 320737 rs534173407 16:83948956-83948956 16:83915351-83915351
15 MLYCD NM_012213.3(MLYCD):c.1424A>G (p.Lys475Arg)SNV Uncertain significance 320738 rs200413924 16:83949036-83949036 16:83915431-83915431
16 MLYCD NM_012213.3(MLYCD):c.*27C>TSNV Uncertain significance 320741 rs565054759 16:83949121-83949121 16:83915516-83915516
17 MLYCD NM_012213.3(MLYCD):c.*220A>GSNV Uncertain significance 320748 rs576158206 16:83949314-83949314 16:83915709-83915709
18 MLYCD NM_012213.3(MLYCD):c.*281G>ASNV Uncertain significance 320749 rs886052361 16:83949375-83949375 16:83915770-83915770
19 MLYCD NM_012213.3(MLYCD):c.*288G>TSNV Uncertain significance 320751 rs542680156 16:83949382-83949382 16:83915777-83915777
20 MLYCD NM_012213.3(MLYCD):c.*382G>TSNV Uncertain significance 320752 rs545195059 16:83949476-83949476 16:83915871-83915871
21 MLYCD NM_012213.3(MLYCD):c.*653A>CSNV Uncertain significance 320757 rs372689737 16:83949747-83949747 16:83916142-83916142
22 MLYCD NM_012213.3(MLYCD):c.-11T>CSNV Uncertain significance 320719 rs886052355 16:83932739-83932739 16:83899134-83899134
23 MLYCD NM_012213.3(MLYCD):c.178A>G (p.Thr60Ala)SNV Uncertain significance 320722 rs886052356 16:83932927-83932927 16:83899322-83899322
24 MLYCD NM_012213.3(MLYCD):c.787A>G (p.Ser263Gly)SNV Uncertain significance 320729 rs570550620 16:83941876-83941876 16:83908271-83908271
25 MLYCD NM_012213.3(MLYCD):c.1203G>A (p.Leu401=)SNV Uncertain significance 320734 rs200341673 16:83948815-83948815 16:83915210-83915210
26 MLYCD NM_012213.3(MLYCD):c.1328G>C (p.Gly443Ala)SNV Uncertain significance 320735 rs200278015 16:83948940-83948940 16:83915335-83915335
27 MLYCD NM_012213.3(MLYCD):c.1433A>G (p.Glu478Gly)SNV Uncertain significance 320739 rs200078965 16:83949045-83949045 16:83915440-83915440
28 MLYCD NM_012213.3(MLYCD):c.*42C>TSNV Uncertain significance 320742 rs768055540 16:83949136-83949136 16:83915531-83915531
29 MLYCD NM_012213.3(MLYCD):c.*218C>ASNV Uncertain significance 320747 rs556228149 16:83949312-83949312 16:83915707-83915707
30 MLYCD NM_012213.3(MLYCD):c.*504C>ASNV Uncertain significance 320755 rs534037213 16:83949598-83949598 16:83915993-83915993
31 MLYCD NM_012213.3(MLYCD):c.1160C>T (p.Ser387Leu)SNV Uncertain significance 320733 rs376324546 16:83948772-83948772 16:83915167-83915167
32 MLYCD NM_012213.3(MLYCD):c.*82C>GSNV Uncertain significance 320743 rs531927478 16:83949176-83949176 16:83915571-83915571
33 MLYCD NM_012213.3(MLYCD):c.*130G>TSNV Uncertain significance 320744 rs551713915 16:83949224-83949224 16:83915619-83915619
34 MLYCD NM_012213.3(MLYCD):c.*213G>ASNV Uncertain significance 320746 rs886052360 16:83949307-83949307 16:83915702-83915702
35 MLYCD NM_012213.3(MLYCD):c.463G>T (p.Val155Leu)SNV Uncertain significance 320723 rs764848387 16:83933212-83933212 16:83899607-83899607
36 MLYCD NM_012213.3(MLYCD):c.468G>C (p.Gln156His)SNV Uncertain significance 320724 rs886052357 16:83933217-83933217 16:83899612-83899612
37 MLYCD NM_012213.3(MLYCD):c.613C>T (p.Pro205Ser)SNV Uncertain significance 320727 rs759089126 16:83940676-83940676 16:83907071-83907071
38 MLYCD NM_012213.3(MLYCD):c.734C>G (p.Thr245Ser)SNV Uncertain significance 320728 rs886052358 16:83941823-83941823 16:83908218-83908218
39 MLYCD NM_012213.3(MLYCD):c.998G>T (p.Gly333Val)SNV Uncertain significance 320730 rs886052359 16:83948610-83948610 16:83915005-83915005
40 MLYCD NM_012213.3(MLYCD):c.*135A>GSNV Uncertain significance 320745 rs571831745 16:83949229-83949229 16:83915624-83915624
41 MLYCD NM_012213.3(MLYCD):c.*286G>TSNV Uncertain significance 320750 rs573672482 16:83949380-83949380 16:83915775-83915775
42 MLYCD NM_012213.3(MLYCD):c.505C>T (p.Leu169=)SNV Uncertain significance 320725 rs771885443 16:83933254-83933254 16:83899649-83899649
43 MLYCD NM_012213.3(MLYCD):c.641+3A>CSNV Uncertain significance 577880 16:83940707-83940707 16:83907102-83907102
44 MLYCD NM_012213.3(MLYCD):c.482T>C (p.Leu161Pro)SNV Uncertain significance 570913 16:83933231-83933231 16:83899626-83899626
45 MLYCD NM_012213.3(MLYCD):c.1351A>G (p.Met451Val)SNV Uncertain significance 582754 rs1567637203 16:83948963-83948963 16:83915358-83915358
46 MLYCD NM_012213.3(MLYCD):c.637A>T (p.Ser213Cys)SNV Uncertain significance 653829 16:83940700-83940700 16:83907095-83907095
47 MLYCD NM_012213.3(MLYCD):c.1097T>A (p.Ile366Asn)SNV Uncertain significance 655558 16:83948709-83948709 16:83915104-83915104
48 MLYCD NM_012213.3(MLYCD):c.1255G>A (p.Val419Met)SNV Uncertain significance 657813 16:83948867-83948867 16:83915262-83915262
49 MLYCD NM_012213.3(MLYCD):c.1294C>T (p.Arg432Cys)SNV Uncertain significance 650475 16:83948906-83948906 16:83915301-83915301
50 MLYCD NM_012213.3(MLYCD):c.929G>C (p.Arg310Pro)SNV Uncertain significance 420574 rs146465073 16:83945953-83945953 16:83912348-83912348

Expression for Malonyl-Coa Decarboxylase Deficiency

Search GEO for disease gene expression data for Malonyl-Coa Decarboxylase Deficiency.

Pathways for Malonyl-Coa Decarboxylase Deficiency

Pathways related to Malonyl-Coa Decarboxylase Deficiency according to KEGG:

36
# Name Kegg Source Accession
1 beta-Alanine metabolism hsa00410
2 Propanoate metabolism hsa00640
3 Peroxisome hsa04146

GO Terms for Malonyl-Coa Decarboxylase Deficiency

Sources for Malonyl-Coa Decarboxylase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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