Multiple Acyl-CoA Dehydrogenation Deficiency

Alternative Names

  • MADD
  • Glutaric Acidemia II
  • Glutaric Aciduria II
  • GA II
  • Ethylmalonic-Adipicaciduria
  • EMA
  • Glutaric Acidemia IIA
  • ETFA Deficiency
  • Glutaric Acidemia IIB
  • ETFB Deficiency
  • Glutaric Acidemia IIC
  • ETFDH Deficiency
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WHO-ICD-10 version:2010

Endocrine, nutritional and metabolic diseases

Metabolic disorders

OMIM Number

231680

Mode of Inheritance

Autosomal recessive

Gene Map Locus

4q32.1,15q24.2-q24.3,19q13.41

Description

Multiple Acyl Co-A Dehydrogenase (MADD), also known as Glutaric Aciduria Type II is an autosomal recessively inherited inborn error of metabolism that results from a defect in the body's ability to properly process fats and proteins and produce energy. A severe neonatal form and a relativeley milder late onset form exist. Abnormalities in the level of urinary and serum metabolites, specifically, elevated levels of acylcarnitines, glutaric acid, and 2-hydroxyglutaric acid, are used to diagnose MADD. 

MADD presents itself as a result of deficiency of several mitochondrial dehydrogenase enzymes that utilize Flavin Adenine Dinucleotide (FAD). These include the Electron Transfer Flavoproteins, ETFA and ETFB and Electron Transfer Flavoprotein Dehydrogenase, ETFDH.

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
231680.1United Arab EmiratesMaleYes Metabolic acidosis; Encephalopathy; Hype...NM_004453.4:c.807A>CHomozygousAutosomal, RecessiveAli et al. 2021
231680.2.1United Arab EmiratesFemaleYesYes Episodic vomiting; Abdominal pain; Nause...NM_004453.4:c.807A>CHomozygousAutosomal, RecessiveAli et al. 2021
231680.2.2United Arab EmiratesFemaleYesYes Episodic vomiting; Nausea; Epigastric pa...NM_004453.4:c.807A>CHomozygousAutosomal, RecessiveAli et al. 2021 Sibling of 231680.2....
231680.2.3United Arab EmiratesFemaleYesYes Glutaric aciduria; AsthmaNM_004453.4:c.807A>CHomozygousAutosomal, RecessiveAli et al. 2021 Sibling of 231680.2....
231680.2.4United Arab EmiratesMaleYesYes Glutaric aciduria; Episodic vomiting; He...NM_004453.4:c.807A>CHomozygousAutosomal, RecessiveAli et al. 2021 Sibling of 231680.2....
231680.3United Arab EmiratesFemaleYes Episodic vomiting; Recurrent viral infec...NM_004453.4:c.807A>CHomozygousAutosomal, RecessiveAli et al. 2021 Mild presentation
231680.4United Arab EmiratesMaleYes Glutaric aciduria; Double aortic archNM_004453.4:c.807A>CHomozygousAutosomal, RecessiveAli et al. 2021 Mild presentation
231680.5United Arab EmiratesFemaleNo Glutaric aciduriaNM_004453.4:c.807A>CHomozygousAutosomal, RecessiveAli et al. 2021 Asymptomatic
231680.6United Arab EmiratesMale Glutaric aciduria; Myopathy; Hypoglycemi...NM_004453.4:c.807A>CHomozygousAutosomal, RecessiveAli et al. 2021
231680.G.1United Arab EmiratesUnknownNM_004453.4:c.807A>CHomozygousAutosomal, RecessiveAl-Shamsi et al. 2014 Group of 4 unrelated...
231680.G.2United Arab EmiratesUnknown Elevated circulating glutaric acid conce...NM_004453.4:c.807A>C, NM_004453.3:c.1414G>AHomozygousAutosomal, RecessiveAl-Jasmi at al. 2016 Mutations identified...

Other Reports

Egypt

Ozand et al. (1994) described five infants from three families, one Egyptian, two Yemeni, with ethylmalonic aciduria. 

The Centre for Arab Genomic Studies Work Group (2006) conducted a retrospective study for metabolic disorders at AlWasl Hospital in Dubai between 1997 and 2006. Only one case of ethylmalonic aciduria was observed in a 9-month-old Egyptian girl resident of the UAE.

Lebanon

In a retrospective analysis of IEMs diagnosed over a 12-year period (1998-2010) in a hospital in Lebanon, Karam et al. (2013) found 15 patients diagnosed with Glutaric Acidemia Type II. 

Oman

Joshi et al. (2002) carried out a retrospective analysis of patients born with inborn errors of metabolism in Oman between June 1998 and December 2000. Among 82 patients, only one was diagnosed with glutaric aciduria type II [CTGA Database Editor's note: Computed annual incidence rate is 0.8/100,000].

Al-Riyami et al (2012) reported on the types and patterns of IEMs encountered in a sample of 1100 high-risk neonates referred to SQU Hospital in Oman over a 10-year period (1998-2002). Glutaric Acidemia-II was detected in eight neonates (five males, three females), belonging to four families.

Yemen

[See: Egypt > Ozand et al., (1994)].

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