MADD (C-Terminus) Peptide
- Known as:
- MADD (C-Terminus) Peptide
- Catalog number:
- 1150P
- Product Quantity:
- 0.05 mg
- Category:
- -
- Supplier:
- Prosci
- Gene target:
- MADD (C-Terminus) Peptide
Related genes to: MADD (C-Terminus) Peptide
- Gene:
- ETFA NIH gene
- Name:
- electron transfer flavoprotein subunit alpha
- Previous symbol:
- -
- Synonyms:
- GA2, EMA, MADD
- Chromosome:
- 15q24.2-q24.3
- Locus Type:
- gene with protein product
- Date approved:
- 1986-01-01
- Date modifiied:
- 2018-04-23
- Gene:
- MADD NIH gene
- Name:
- MAP kinase activating death domain
- Previous symbol:
- -
- Synonyms:
- DENN, KIAA0358, RAB3GEP
- Chromosome:
- 11p11.2
- Locus Type:
- gene with protein product
- Date approved:
- 1999-12-17
- Date modifiied:
- 2016-01-19
Related products to: MADD (C-Terminus) Peptide
Related articles to: MADD (C-Terminus) Peptide
- Multiple acyl-CoA dehydrogenase deficiency (MADD) is caused by variants in the ETFA, ETFB or ETFDH genes. MADD type 1, the most severe phenotype, presents antenatally with congenital anomalies and, commonly, renal cystic anomalies. We describe four prenatal cases with MADD-related genetic findings, detailed ultrasound findings, and outcomes. - Source: PubMed
Publication date: 2026/09/26
Luke Noel DeepJames Lois SaraBeck Manisha MadhaiNavaneethan Preethi RajaAaron RekhaDanda Sumita - Multiple acyl-Coenzyme A dehydrogenase deficiency (MADD) is an inborn error of metabolism affecting fatty acid, amino acid and choline oxidation and is included in newborn screening in Australia. Recent reports describe adults with clinical and biochemical features of MADD, but negative genetic findings, associated with sertraline use. - Source: PubMed
Publication date: 2026/05/17
Barbetti RebeccaColeman KateFraser LouiseDemetriou KalliopeJayadiwangsa ElaineBratkovic DragoSiu Carol Wai-Kwan - Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) is an autosomal recessive inborn error of metabolism caused by biallelic pathogenic variants in one of three known genes: ETFA, ETFB, and ETFDH. It can cause multisystem dysfunction, including cardiomyopathy in severe cases. Ketone supplementation has been reported to be beneficial in a few case reports, but its long-term effectiveness remains unclear. We report an infant with a clinical and biochemical diagnosis of MADD who showed a favorable response to ketone supplementation, with marked improvement in severe cardiac dysfunction and sustained near-normal cardiac function and biochemical profiles over 3.5 years. Although genome sequencing did not identify causative variants, RNA sequencing revealed reduced ETFB transcript levels, and western blot analysis showed decreased ETFB protein levels. This case report illustrates MADD without an identified molecular diagnosis and provides evidence that near-absent ETFB expression is likely responsible for his presentation. These observations can guide further studies investigating the transcriptional regulation of ETFB, thereby elucidating an underappreciated molecular mechanism underlying MADD. Initiating metabolic therapy in patients with clinically suspected MADD, even in the absence of a confirmed molecular diagnosis, can be beneficial as suggested by the clinical and biochemical responses to our therapeutic trial. - Source: PubMed
Publication date: 2026/04/27
Furuta YutakaBloom Kaitlyn NVockley JerryGrochowsky Angela RAgrawal Neena SStrickler Ellen WOwen Natalie NGray Erica TPerera B Lakshitha AGamazon Eric RRives Lynette CChen Hua-ChangLiu QiHamid RizwanCogan Joy DPhillips John ACassini Thomas ASchuler Bryce A - Glutaric acidemia type II (GA2), also known as multiple acyl-CoA dehydrogenase deficiency (MADD), is a rare inherited error of amino acid and fatty acid metabolism. Its clinical manifestations can vary from severe events that threaten the life of a newborn to milder and late manifestations. Here, we examined an Iranian couple for pre-pregnancy counseling who had a history of the death of two children suspected of metabolic disorder. - Source: PubMed
Publication date: 2025/11/18
Parvini FarshidAjam-Hosseini MobarakehShadpour Marziyeh - Multiple acyl-CoA dehydrogenase deficiency (MADD) is a primary mitochondrial dysfunction affecting mitochondrial fatty acid and protein metabolism, caused by biallelic pathogenic variants in ETFA, ETFB, or ETFDH genes. The heterogeneous phenotypes associated with MADD have been classified into three groups: neonatal onset with congenital anomalies (type 1), neonatal onset without congenital anomalies (type 2), and attenuated and/or later onset (type 3). Here, we present two cases with biochemical profiles mimicking late-onset MADD but negative genetic testing, associated with the use of sertraline, a commonly used antidepressant. Case 1 is a 22 yo woman diagnosed with depression and profound fatigue who was referred to the metabolic clinic because of carnitine deficiency and a plasma acylcarnitine profile with a MADD-like pattern. Case 2 is a 61 yo woman with a history of chronic fatigue who was admitted to the emergency department with difficulty swallowing, metabolic acidosis, and mild rhabdomyolysis. Plasma acylcarnitine profile showed a MADD-like pattern. The muscle biopsy revealed lipid droplet accumulation and proliferation of mitochondria with abnormal osmiophilic inclusions, and a biochemical assay of the respiratory chain showed a deficit in complex II activity. In both cases, urine organic acid profile was normal, and genetic tests did not detect variants in the genes involved in MADD. Sertraline was on their list of medications and considering its association with inhibition of mitochondrial function and rhabdomyolysis, the team recommended the discontinuation under medical supervision. In Case 1 after discontinuation, the plasma acylcarnitine test normalized, only to return abnormal when the patient resumed sertraline. In Case 2, after sertraline was discontinued rhabdomyolysis resolved, and the muscle biopsy and biochemical assay of the respiratory chain normalized. Although sertraline is considered a safe drug, these two cases suggest that the use of sertraline may be associated with a potentially reversible form of mitochondrial dysfunction mimicking MADD. Further studies are needed to confirm and estimate the risk of MADD-like presentations with the use of sertraline, as well as identifying additional contributing factors, including genetic factors. Metabolic physicians should consider sertraline use in the differential diagnosis of MADD, particularly when genetic testing is negative. - Source: PubMed
Publication date: 2024/09/16
Ingoglia FilippoTanfous MohsenEllezam BenjaminAnderson Katherine JPasquali MarziaBotto Lorenzo D