Multiple Acyl-Coa Dehydrogenase Deficiency

External Ids:

OMIM 57 231680 Disease Ontology 12 DOID:0060358 ICD10 33 E71.313 MeSH 44 D054069 NCIt 50 C84907 C99102 SNOMED-CT 68 22886006

Orphanet 59 ORPHA26791 ICD10 via Orphanet 34 E71.3 UMLS via Orphanet 74 C0268596 C2931346 MedGen 42 C0268596 C1856401 C3278154 C1856403 C3278155 C1856405 C3278156 more SNOMED-CT via HPO 69 258211005 82525005 253255002 246803005 609587005 79410001 18165001 398151007 398152000 23024003 26544005 267384006 197321007 442191002 237630007 271327008 302866003 248200007 32003007 398206004 398302004 249497008 300359004 422400008 422587007 80825009 230145002 267036007 271825005 359580009 81415000 80515008 45154002 28987007 276506001 more UMLS 73 C0268596 C1856401 C1856403 C1856405 C3278154 C3278155 C2931346 more

OMIM : ⁵⁷ Glutaric aciduria II (GA2) is an autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism. It differs from GA I (GA1; 231670) in that multiple acyl-CoA dehydrogenase deficiencies result in large excretion not only of glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. GA II results from deficiency of any 1 of 3 molecules: the alpha (ETFA) and beta (ETFB) subunits of electron transfer flavoprotein, and electron transfer flavoprotein dehydrogenase (ETFDH). The clinical picture of GA II due to the different defects appears to be indistinguishable; each defect can lead to a range of mild or severe cases, depending presumably on the location and nature of the intragenic lesion, i.e., mutation, in each case (Goodman, 1993; Olsen et al., 2003). The heterogeneous clinical features of patients with MADD fall into 3 classes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal and are characterized by severe nonketotic hypoglycemia, metabolic acidosis, multisystem involvement, and excretion of large amounts of fatty acid- and amino acid-derived metabolites. Symptoms and age at presentation of late-onset MADD are highly variable and characterized by recurrent episodes of lethargy, vomiting, hypoglycemia, metabolic acidosis, and hepatomegaly often preceded by metabolic stress. Muscle involvement in the form of pain, weakness, and lipid storage myopathy also occurs. The organic aciduria in patients with the late-onset form of MADD is often intermittent and only evident during periods of illness or catabolic stress (summary by Frerman and Goodman, 2001). Importantly, riboflavin treatment has been shown to ameliorate the symptoms and metabolic profiles in many MADD patients, particularly those with type III, the late-onset and mildest form (Liang et al., 2009). (231680)

MalaCards based summary : Multiple Acyl-Coa Dehydrogenase Deficiency, also known as madd, is related to lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency and transient neonatal multiple acyl-coa dehydrogenase deficiency. An important gene associated with Multiple Acyl-Coa Dehydrogenase Deficiency is ETFDH (Electron Transfer Flavoprotein Dehydrogenase), and among its related pathways/superpathways are Metabolism and Mitochondrial LC-Fatty Acid Beta-Oxidation. The drug Pharmaceutical Solutions has been mentioned in the context of this disorder. Affiliated tissues include kidney, liver and brain, and related phenotypes are macrocephaly and muscular hypotonia

UniProtKB/Swiss-Prot : ⁷⁵ Glutaric aciduria 2A: An autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism. It is characterized by multiple acyl-CoA dehydrogenase deficiencies resulting in large excretion not only of glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids.

NIH Rare Diseases : ⁵³ Glutaric acidemia type II (GA2) is a disorder that interferes with the body's ability to break down proteins and fats to produce energy. The severity of GA2 varies widely among affected individuals. Some have a very severe form which appears in the neonatal period and may be fatal; individuals with this form may be born with physical abnormalities including brain malformations, an enlarged liver, kidney malformations, unusual facial features, and genital abnormalities. They may also emit an odor resembling sweaty feet. Others have a less severe form which may appear in infancy, childhood, or even adulthood. Most often, GA2 first appears in infancy or early childhood as a sudden episode of a metabolic crisis that can cause weakness, behavior changes (such as poor feeding and decreased activity) and vomiting. GA2 is inherited in an autosomal recessive manner and is caused by mutations in the ETFA, ETFB, or ETFDH genes. Treatment varies depending on the severity and symptoms but often includes a low fat, low protein, and high carbohydrate diet.

Genetics Home Reference : ²⁵ Glutaric acidemia type II is an inherited disorder that interferes with the body's ability to break down proteins and fats to produce energy. Incompletely processed proteins and fats can build up in the body and cause the blood and tissues to become too acidic (metabolic acidosis).

Disease Ontology : ¹² An inherited metabolic disorder characterized by the body's inability to break down proteins and fats to produce energy. It is a disorder of fatty acid, amino acid, and choline metabolism and has an autosomal recessive inheritance pattern. It has material basis in mutations in the ETFA, ETFB and ETFDH genes. It presents three clinical phenotypes

Wikipedia : ⁷⁶ Organic acidemia, also called organic aciduria, is a term used to classify a group of metabolic... more...

Clinical features from OMIM:

231680

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Increased transferrin (TF) endocytosis	GR00363-A	9.28	ACADS COQ8A CPT2 ETFA ETFB ETFDH
2	Decreased POU5F1-GFP protein expression	GR00184-A-1	9.26	CPT2 ETFDH SLC52A1 ACADS

Search NIH Clinical Center for Multiple Acyl-Coa Dehydrogenase Deficiency

Search GEO for disease gene expression data for Multiple Acyl-Coa Dehydrogenase Deficiency.