Multiple Acyl-coa Dehydrogenase Deficiency; Madd

Description

Glutaric aciduria II (GA2) is an autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism. It differs from GA I (GA1 ) 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).

Clinical Features

Top most frequent phenotypes and symptoms related to Multiple Acyl-coa Dehydrogenase Deficiency; Madd

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Failure to thrive
  • Strabismus
  • Muscle weakness
  • Abnormal facial shape
  • Muscular hypotonia

And another 152 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative names

Multiple Acyl-coa Dehydrogenase Deficiency; Madd Is also known as ema, ethylmalonic-adipicaciduria, glutaric aciduria ii, ga ii, glutaric acidemia ii, ga2.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Multiple Acyl-coa Dehydrogenase Deficiency; Madd Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMetĀ®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
100 %
ETFB Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

ETFB
Specificity
100 %
Genes
34 %
ETFB Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

ETFB
Specificity
100 %
Genes
34 %
ETFB Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

ETFB
Specificity
100 %
Genes
34 %
ETFB Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

ETFB
Specificity
100 %
Genes
34 %
Multiple Acyl-CoA Dehydrogenase Deficiency Panel.

By Baylor Miraca Genetics Laboratories (United States).

ETFA, ETFB, ETFDH
Specificity
100 %
Genes
100 %
Multiple Acyl-CoA Dehydrogenase Deficiency Comprehensive Panel (Sequencing and Deletion/Duplication Analysis).

By Baylor Miraca Genetics Laboratories (United States).

ETFA, ETFB, ETFDH
Specificity
100 %
Genes
100 %
Multiple Acyl-CoA Dehydrogenase Deficiency Deletion/Duplication Panel.

By Baylor Miraca Genetics Laboratories (United States).

ETFA, ETFB, ETFDH
Specificity
100 %
Genes
100 %

We have 144 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Genetic Syndrome Finder

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