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Medical condition
Malonic aciduria or malonyl-CoA decarboxylase deficiency (MCD) is an autosomal-recessive metabolic disorder caused by a genetic mutation that disrupts
Malonic_aciduria
Rare metabolic disease
Combined malonic and methylmalonic aciduria (CMAMMA), also called combined malonic and methylmalonic acidemia is an inherited metabolic disease biochemically
Combined malonic and methylmalonic aciduria
Combined_malonic_and_methylmalonic_aciduria
Carboxylic acid with chemical formula CH2(COOH)2
indicate the metabolic disease combined malonic and methylmalonic aciduria (CMAMMA). By calculating the malonic acid to methylmalonic acid ratio in blood
Malonic_acid
Medical condition
can then also be used to determine whether it is CMAMMA (MA<MMA) or malonic aciduria (MA>MMA). The test is used for further differential diagnosis and to
Methylmalonic_acidemias
Protein-coding gene in the species Homo sapiens
combined malonic and methylmalonic aciduria (CMAMMA). CMAMMA is a condition characterized by high levels of methylmalonic acid and malonic acid. The
ACSF3
Chemical compound
pathway cause the metabolic disorders combined malonic and methylmalonic aciduria (CMAMMA) and malonic aciduria. In CMAMMA (prevalence: 1: 30,000), the malonyl-CoA
Malonyl-CoA
Chemical compound
significantly oxidized. In the metabolic disease combined malonic and methylmalonic aciduria (CMAMMA) due to ACSF3 deficiency, mitochondrial fatty acid
Lipoic_acid
"Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria". Nature Genetics. 43 (9): 883–886. doi:10.1038/ng.908. ISSN 1061-4036
List_of_genetic_disorders
Chemical compound
cofactor for the enzyme methylmalonyl-CoA mutase. In combined malonic and methylmalonic aciduria (CMAMMA), mutations in the ACSF3 gene impair the mitochondrial
Methylmalonyl-CoA
Chemical compound
common to these patients. In the metabolic disease combined malonic and methylmalonic aciduria (CMAMMA) due to ACSF3 deficiency, there is an altered composition
Cardiolipin
Chemical compound
elevated malonic acid levels, this may indicate the metabolic disease combined malonic and methylmalonic aciduria (CMAMMA). By calculating the malonic acid
Methylmalonic_acid
Class of enzymes
the cell. In peroxisomes, the accumulation of this substance causes malonic aciduria, a highly pathogenic disease. To avoid it malonyl-CoA decarboxylase
Malonyl-CoA_decarboxylase
Family of enzymes
"Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria". Nature Genetics. 43 (9): 883–886. doi:10.1038/ng.908. ISSN 1061-4036
Acyl-CoA_synthetase
Malignant paroxysmal ventricular tachycardia Mallory–Weiss syndrome Malonic aciduria Malonyl-CoA decarboxylase deficiency Malouf syndrome Malpuech facial
List_of_diseases_(M)
Post-translational modification
dehydrogenase (VLCAD) In the metabolic disorder combined malonic and methylmalonic aciduria (CMAMMA), the mitochondrial enzyme ACSF3 is defective, which
Lysine_malonylation
Decrease in blood sugar
of intermittent hypoglycemia, as for example in combined malonic and methylmalonic aciduria (CMAMMA), propionic acidemia, or isolated methylmalonic acidemia
Hypoglycemia
Human chromosome
polycystic kidney disease (PKD-1) Batten disease Combined malonic and methylmalonic aciduria (CMAMMA) Familial Mediterranean fever (FMF) Synesthesia Thalassemia
Chromosome_16
Chemical compound
the following metabolic diseases:[citation needed] Combined malonic and methylmalonic aciduria (CMAMMA) Maple syrup urine disease (MSUD) Methylmalonic acidemia
Valine
Rare metabolic disorder
protein lipoylation and improved cellular respiration. Combined malonic and methylmalonic aciduria (CMAMMA) "Orphanet: MEPAN syndrome". www.orpha.net. Retrieved
MEPAN_syndrome
Medical condition
deficiency, mitochondrial acetoacetyl-CoA thiolase deficiency and malonic aciduria. 3-Methylcrotonyl-CoA carboxylase deficiency is differentiated by the
3-Methylcrotonyl-CoA carboxylase deficiency
3-Methylcrotonyl-CoA_carboxylase_deficiency
Amino acid
is impaired in the following metabolic diseases: Combined malonic and methylmalonic aciduria (CMAMMA) Methylmalonic acidemia Propionic acidemia During
Threonine
acid metabolism Methylmalonic acidemia (Cbl C,D) Malonic acidemia 2-Methyl 3-hydroxy butyric aciduria Isobutyryl-CoA dehydrogenase deficiency 2-Methylbutyryl-CoA
List of disorders included in newborn screening programs
List_of_disorders_included_in_newborn_screening_programs
Family of waxy lipid molecules
the intermembrane space. In the metabolic disease combined malonic and methylmalonic aciduria (CMAMMA) due to ACSF3, a massive altered composition of complex
Ceramide
Class of genetic diseases
acid metabolism (organic acidurias) alkaptonuria Combined malonic and methylmalonic aciduria (CMAMMA) 2-hydroxyglutaric acidurias Disorders of fatty acid
Inborn_errors_of_metabolism
Chemical compound
is impaired in the following metabolic diseases: Combined malonic and methylmalonic aciduria (CMAMMA) Maple syrup urine disease (MSUD) Methylmalonic acidemia
Isoleucine
Enzyme that regulates the metabolism of fatty acids
heterogeneous clinical phenotypes of the metabolic disease combined malonic and methylmalonic aciduria (CMAMMA) due to ACSF3 deficiency are thought to result from
Acetyl-CoA_carboxylase
Multienzyme complex involved in Kreb's cycle
remains relatively unknown. In the metabolic disease combined malonic and methylmalonic aciduria (CMAMMA) due to ACSF3 deficiency, mitochondrial fatty acid
Oxoglutarate dehydrogenase complex
Oxoglutarate_dehydrogenase_complex
Protein-coding gene in the species Homo sapiens
developmental stage. In the metabolic disorder of combined malonic and methylmalonic aciduria (CMAMMA) due to ACSF3 deficiency, there is a massively increased
PGC-1α
Causes of low blood sugar in humans
Clove Coenzyme Q cytochrome c reductase deficiency Combined malonic and methylmalonic aciduria (CMAMMA) Deficiency in enzymes of fat oxidation Delayed separation
List of causes of hypoglycemia
List_of_causes_of_hypoglycemia
Sulfur-containing amino acid
the following metabolic diseases:[citation needed] Combined malonic and methylmalonic aciduria (CMAMMA) Homocystinuria Methylmalonic acidemia Propionic acidemia
Methionine
Series of interconnected biochemical reactions
deficiency, leading to chronic hemolytic anemia. In combined malonic and methylmalonic aciduria (CMAMMA) due to ACSF3 deficiency, glycolysis is reduced by
Glycolysis
Disorder resulting from low blood levels of vitamin B12
further accompanied by elevated malonic acid levels, this may be indicative of combined malonic and methylmalonic aciduria (CMAMMA). If nervous system damage
Vitamin_B12_deficiency
Class of enzymes
plant growth. In the inborn error of metabolism combined malonic and methylmalonic aciduria (CMAMMA), the malonyl-CoA synthetase ACSF3 is defective, leading
Malonate—CoA_ligase
Protein-coding gene in the species Homo sapiens
acids probably due to a defect in the metabolism of the corresponding malonic semialdehydes". Journal of Inherited Metabolic Disease. 8 (2): 75–9. doi:10
Aldehyde dehydrogenase 6 family, member A1
Aldehyde_dehydrogenase_6_family,_member_A1
Vitamin B9; nutrient essential for DNA synthesis
levels may also be due to the rare metabolic disorder combined malonic and methylmalonic aciduria (CMAMMA). Folate deficiency is treated with supplemental oral
Folate
Autosomal recessive metabolic disorder
may play a role in treating individuals with MSUD. Combined malonic and methylmalonic aciduria (CMAMMA) Isovaleric acidemia Methylmalonic acidemia Propionic
Maple_syrup_urine_disease
312863; IL2RG Combined malonic and methylmalonic aciduria (CMAMMA); 614265; ACSF3 Combined malonic and methylmalonic aciduria (CMAMMA); 248360; MLYCD
List_of_OMIM_disorder_codes
Multienzyme complex
disease state is unknown. In the metabolic disease combined malonic and methylmalonic aciduria (CMAMMA) due to ACSF3 deficiency, mitochondrial fatty acid
Pyruvate dehydrogenase complex
Pyruvate_dehydrogenase_complex
Medical condition
acidemia.[citation needed] Methylmalonyl-CoA mutase Combined malonic and methylmalonic aciduria (CMAMMA) "Methylmalonyl-Coenzyme A mutase deficiency". The
Methylmalonyl-CoA mutase deficiency
Methylmalonyl-CoA_mutase_deficiency
Combarros–Calleja–Leno syndrome Combined hyperlipidemia, familial Combined malonic and methylmalonic aciduria Common cold Common mesentery Common variable immunodeficiency
List_of_diseases_(C)
Molecular gases which transmit information
during heme oxidation by heme oxygenase-1. It can also be formed from malonic acid. It has been shown that carbon suboxide in an organism can quickly
Gaseous_signaling_molecules
Biochemical process in which fatty acids are derived from acetyl-CoA and NADPH
are associated with the following diseases: ACSF3: Combined malonic and methylmalonic aciduria (CMAMMA) MCAT: Optic atrophy 15 (OPA15) MECR: Mitochondrial
Fatty_acid_synthesis
Protein-coding gene in the species Homo sapiens
abnormalities has also been reported. ACSF3 MCAT Combined malonic and methylmalonic aciduria (CMAMMA) GRCh38: Ensembl release 89: ENSG00000116353 – Ensembl
MECR
MALONIC ACIDURIA
MALONIC ACIDURIA
Girl/Female
Hawaiian
The sky;chieftain.
Girl/Female
Hindu, Indian
In Charge
Girl/Female
Indian
Golden, Beautiful
Boy/Male
Hindu
To make melodic sounds, Chanting
Boy/Male
Irish
Serves Saint John. Surname.
Girl/Female
Hindu
Beautiful
Girl/Female
Latin
From the vale.
Girl/Female
French, Gujarati, Hindu, Indian, Italian
Achiever
Girl/Female
Gujarati, Hindu, Indian, Kannada, Malayalam, Marathi, Sanskrit, Tamil, Telugu
Beautiful; Smart; Innovative; Stunning; Lovely; Talented; Graceful
Girl/Female
Hindu, Indian
Peace
Girl/Female
Gujarati, Hebrew, Hindu, Indian, Kannada, Malayalam, Marathi, Sanskrit, Sindhi, Tamil, Telugu, Traditional
Sweet; Fragrant; Florist; A River; A Garland-maker
Girl/Female
Celebrity, Gujarati, Hindu, Indian, Kannada, Sanskrit, Traditional
Goddess of Melody; Master of Melodic Modes
Boy/Male
Hindu
To make melodic sounds, Chanting
Boy/Male
Gaelic Irish
Devoted to God.
Girl/Female
Hindu
Fragrant, Jasmine, Gardener, Another name for Durga and the ganges, A garland maker
Girl/Female
Australian, Greek
Black; Dark-skinned
Girl/Female
Greek
Victory of beauty.
Male
English
Irish surname transferred to forename use, from an Anglicized form of Gaelic Ó Maoil Eoin, MALONE means "devotee of St. Eoin (John)."
Boy/Male
Tamil
To make melodic sounds, Chanting
Boy/Male
Tamil
To make melodic sounds, Chanting
MALONIC ACIDURIA
MALONIC ACIDURIA
Girl/Female
Muslim
Everlasting happiness, Illumination
Boy/Male
Spanish
Famous.
Boy/Male
Indian, Punjabi, Sikh
A Saintly Person
Boy/Male
Hindu, Indian, Malayalam, Tamil, Telugu
Sun
Girl/Female
Indian
Beauty
Boy/Male
Australian, British, Danish, Dutch, English, Finnish, French, German, Netherlands, Swedish, Swiss, Teutonic
Protection; Will-helmet; Will; Desire; Bright
Surname or Lastname
English
English : topographic name for someone who lived on a patch of land on which grew bent grass, rushes, or reeds (Middle English bent).
Boy/Male
Arabic, Muslim
Reviver of the Faith
Girl/Female
Arabic English
A jewel-quality fossilized resin; as a color the name refers to a warm honey shade.
Female
Native American
Native American Quechua name TAMAYA means "in the center."
MALONIC ACIDURIA
MALONIC ACIDURIA
MALONIC ACIDURIA
MALONIC ACIDURIA
MALONIC ACIDURIA
n.
A hydrocarbon radical, CH2.(CO)2, from malonic acid.
a.
Pertaining to, or obtained from, apples; as, malic acid.
n.
Agonic line.
a.
Miltonic.
n.
A salt of meconic acid.
a.
Pertaining to, or obtained from, mustard; -- used specifically to designate a glucoside called myronic acid, found in mustard seed.
a.
Designating, or pertaining to, the series of rocks forming the Taconic mountains in Western New England. They were once supposed to be older than the Cambrian, but later proved to belong to the Lower Silurian and Cambrian.
adv.
In a laconic manner.
a.
Of or pertaining an acid intermediate between malic acid and malamide, and known only by its salts.
n.
An Adonic verse.
a.
At salt of malonic acid.
a.
Of, pertaining to, or resembling, Milton, or his writings; as, Miltonic prose.
a.
Of or pertaining to caloric.
a.
See Laconic, a.
a.
Pertaining to, or designating, an acid of the ethylene series, metameric with fumaric acid and obtained by heating malic acid.
a.
Characterized by atony, or want of vital energy; as, an atonic disease.
a.
Curt; brief; laconic.
a.
Unaccented; as, an atonic syllable.
n.
A salt of malamic acid.
a.
Pertaining to, or designating, an acid produced artifically as a white crystalline substance, CH2.(CO2H)2, and so called because obtained by the oxidation of malic acid.