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Methylmalonic Acidemia
Published in Charles Theisler, Adjuvant Medical Care, 2023
Methylmalonic acidemia is an inherited disorder in which the body is unable to properly process certain proteins and lipids. The result is a buildup of a substance called methylmalonic acid in the blood.1 The effects of methylmalonic acidemia usually appear in early infancy. Affected infants may experience vomiting, dehydration, weak muscle tone (hypotonia), developmental delay, excessive tiredness (lethargy), an enlarged liver (hepatomegaly), seizures, and/or failure to gain weight and grow at the expected rate (failure to thrive). Long-term complications include feeding problems, intellectual disability, chronic kidney disease, and inflammation of the pancreas (pancreatitis).1 Without treatment, this disorder can lead to coma and death.
Methylmalonic acidemia
Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020
William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop
Pancreatitis has been reported in a variety of organic acidemias [53]. Among the patients, methylmalonic acidemia was particularly prominent. Five of nine patients had methylmalonic acidemia; of these, two died. One of our adult patients with mut0 disease died of acute hemorrhagic pancreatitis.
Medical Child Abuse and Homicide
Published in David J. George, Poisons, 2017
Misdiagnosis of MCA could happen in circumstances in which there is a legitimate basis for considering this possibility. Errors can be made in good faith and concern for a child’s welfare stemming from limited information, incomplete investigation, unrecognized illness, or misunderstandings about caretaker motivation. Guidelines for minimizing the risk of misdiagnoses of MCA can be found in a number of authoritative medical reviews of factitious disorders. An often cited case of misdiagnosis of MCA involved the death of a child suffering from an unrecognized rare medical condition. A mother was accused of killing her child by poisoning with ethylene glycol. This mother was convicted and sent to prison. It was shown later that the child had died because of a rare genetic disorder known as methylmalonic acidemia. This condition produces symptoms similar to those seen with ethylene glycol poisoning.
Clinical application of NGS-based SNP haplotyping for PGT-M of methylmalonic acidemia
Published in Systems Biology in Reproductive Medicine, 2022
Bin He, Lin Wang, Qiuhua Wu, Xiaobin Wang, Xingzhe Ji, Wenhao Shi, Juanzi Shi, Rong Qiang, Shuai Zhen
Methylmalonic acidemia (MMA) is a group of autosomal recessive disorders mainly divided into isolated MMA and combined MMA with homocysteinemia (Almási et al. 2019). The methylmalonyl-CoA mutase (MMUT) type MMA is one of the isolated forms caused by a complete or partial deficiency of MMUT due to mutations in the MMUT (NM_000255.4) gene (Ji et al. 2019a). MMUT deficiency causes elevated levels of methylmalonyl-CoA and methylmalonic acid in body fluids and tissues. Delayed diagnosis and treatment results in the accumulation of methylmalonic acid, which damages the central nervous system and causes deep coma, metabolic crisis and death during the newborn period (Tanacan et al. 2019; Han et al. 2020). Patients with MMA, although treated in accordance with guidelines, including dietary protein restriction, carnitine supplementation and the use of drugs to modulate ammonia, may still experience acute metabolic crisis or even have to undergo surgery (Baumgartner et al. 2014; Fraser and Venditti 2016). Furthermore, these treatments can neither block the vertical heredity of pathogenic mutations nor guarantee quality of life.
Understanding Symbol Repetition in Art Therapy
Published in Art Therapy, 2021
Michelle Nuttall, Lise Pelletier
It was an honor to work with Philip, a joyful, engaging, and warmhearted 12-year-old boy. He had a great sense of humor, was genuine, and truly cared for the other children in his unit. Diagnosed with acute methylmalonic acidemia, an autosomal recessive disorder, within the first weeks of his life, Philip had been living in a long-term care setting for several years when we met. He was tube-fed as he had to ingest a low-protein diet, circulated in a wheelchair as he had stopped thriving years prior to our meeting and had mobility issues. He experienced dystonia with sudden unsolicited movements of his upper limbs and had a developmental delay. Philip appeared to have the emotional development compatible with that of a preschooler. He had yet to develop the capacity for insight. In turn, his answers to my questions were brief and undeveloped.
Optic neuropathy in classical methylmalonic acidemia
Published in Ophthalmic Genetics, 2019
Mohammed AlOwain, Ola Ali Khalifa, Zahra Al Sahlawi, Maged H Hussein, Raashda A Sulaiman, Moeen Al-Sayed, Zuhair Rahbeeni, Zuhair Al-Hassnan, Hamad Al-Zaidan, Hachemi Nezzar, Iftetah Al Homoud, Abdelmoneim Eldali, Brian Altonen, Bedour S Handoom, Joyce N Mbekeani
Methylmalonic acidemia (MMA) is a relatively common autosomal recessive-inherited metabolic disorder of branched-chain amino acids (isoleucine, valine, methionine and threonine), odd-chained fatty acids and cholesterol. Biochemically, methylmalonic acidemia (MMA, OMIM 609058) is the hallmark of a group of metabolic disorders that disturbs the conversion of methylmalonyl-CoA into succinyl-CoA. The classical form is a consequence of mutation of the MUT gene on chromosome 6, responsible for production of the mitochondrial, methylmalonyl CoA mutase apoenzyme (MCM, EC 5.4.99.2) (1–3). The resultant enzyme deficiency prevents vitamin B12-dependent conversion of methylmalonyl-CoA to succinyl-CoA, required in the Krebs cycle for energy production and the accumulation of methylmalonic acid in various tissues and body fluids. This metabolic disorder is characterized by intermittent periods of potentially lethal metabolic decompensation (metabolic acidosis and/or hyperammonemia), usually triggered by concurrent infection, dietary indiscretion and stress, followed by periods of relatively good clinical health (4,5). These episodes are defined as metabolic crises. Disorders of intracellular cobalamin metabolism caused by impaired synthesis or transport of the cofactor, adenosyl-cobalamin (cblA, cblB and variant 2 of cblD-MMA) exhibit phenotypically similar clinical features to MMA (1,3,4).