Methylmalonic Acidemia- A Rare Inborn Error of Metabolism
The methylmalonic acidemias (MMA) are a heterogeneous group of autosomal recessive inborn errors of organic acid metabolism. The hallmark of MMA is hyperammonemia, encephalopathy and metabolic acidosis in infancy and especially so in neonatal age group. Management of such cases is often challen...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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JCDR Research and Publications Pvt. Ltd.
2016-04-01
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| Series: | Indian Journal of Neonatal Medicine and Research |
| Subjects: | |
| Online Access: | http://www.ijnmr.net/articles/PDF/2126/4-%2017247_F(P)_PF1(Vsu_Om)_PFA(Om)_PF2(PVSU).pdf |
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| author | Charusheela Sujit Korday Rahul Ramnath Holkar Shruti Sudhir Jadhav Maaz Ahmed Sushma Malik |
| author_facet | Charusheela Sujit Korday Rahul Ramnath Holkar Shruti Sudhir Jadhav Maaz Ahmed Sushma Malik |
| author_sort | Charusheela Sujit Korday |
| collection | DOAJ |
| description | The methylmalonic acidemias (MMA) are a
heterogeneous group of autosomal recessive inborn
errors of organic acid metabolism. The hallmark of MMA
is hyperammonemia, encephalopathy and metabolic
acidosis in infancy and especially so in neonatal age
group. Management of such cases is often challenging
and is associated with variable outcome. We present
a nine day old male child who was referred to us with
vomiting, lethargy and myoclonic seizures. Organic
acidemia was thought of, because the neonate had
metabolic acidosis with increased anion gap along
with hyperammonemia, ketonuria and hypoglycemia.
Tandem mass spectrometry along with Gas
Chromatography-Mass Spectrophotometry helped us
to clinch the diagnosis of methylmalonic acidema in our
neonate. Patient was symptomatically managed along
with carnitine and multivitamin supplements. He was
sent home with advice of regular follow-up. |
| first_indexed | 2024-12-18T04:51:38Z |
| format | Article |
| id | doaj.art-e47012060aa047be94b822948d11dde6 |
| institution | Directory Open Access Journal |
| issn | 2277-8527 2455-6890 |
| language | English |
| last_indexed | 2024-12-18T04:51:38Z |
| publishDate | 2016-04-01 |
| publisher | JCDR Research and Publications Pvt. Ltd. |
| record_format | Article |
| series | Indian Journal of Neonatal Medicine and Research |
| spelling | doaj.art-e47012060aa047be94b822948d11dde62022-12-21T21:20:24ZengJCDR Research and Publications Pvt. Ltd.Indian Journal of Neonatal Medicine and Research2277-85272455-68902016-04-0142111310.7860/IJNMR/2016/17247.2126Methylmalonic Acidemia- A Rare Inborn Error of MetabolismCharusheela Sujit Korday0Rahul Ramnath Holkar1Shruti Sudhir Jadhav2Maaz Ahmed3Sushma Malik4Associate Professor, Department of Neonatology, Division of Neonatology, Department of Pediatrics, TN Medical College & BYL Nair Hospital, Mumbai, India.Senior Resident, Department of Neonatology, Division of Neonatology, Department of Pediatrics, TN Medical College & BYL Nair Hospital, Mumbai, India.Assistant Professor, Department of Neonatology, Division of Neonatology, Department of Pediatrics, TN Medical College & BYL Nair Hospital, Mumbai, India. Senior Resident, Department of Neonatology, Division of Neonatology, Department of Pediatrics, TN Medical College & BYL Nair Hospital, Mumbai, India. Professor, Incharge, Department of Neonatology, Division of Neonatology, Department of Pediatrics, TN Medical College & BYL Nair Hospital, Mumbai, India.The methylmalonic acidemias (MMA) are a heterogeneous group of autosomal recessive inborn errors of organic acid metabolism. The hallmark of MMA is hyperammonemia, encephalopathy and metabolic acidosis in infancy and especially so in neonatal age group. Management of such cases is often challenging and is associated with variable outcome. We present a nine day old male child who was referred to us with vomiting, lethargy and myoclonic seizures. Organic acidemia was thought of, because the neonate had metabolic acidosis with increased anion gap along with hyperammonemia, ketonuria and hypoglycemia. Tandem mass spectrometry along with Gas Chromatography-Mass Spectrophotometry helped us to clinch the diagnosis of methylmalonic acidema in our neonate. Patient was symptomatically managed along with carnitine and multivitamin supplements. He was sent home with advice of regular follow-up.http://www.ijnmr.net/articles/PDF/2126/4-%2017247_F(P)_PF1(Vsu_Om)_PFA(Om)_PF2(PVSU).pdfgas chromatography-mass spectrophotometryhyperammonemiametabolic acidosisorganic aciduriatandem mass spectrometry |
| spellingShingle | Charusheela Sujit Korday Rahul Ramnath Holkar Shruti Sudhir Jadhav Maaz Ahmed Sushma Malik Methylmalonic Acidemia- A Rare Inborn Error of Metabolism Indian Journal of Neonatal Medicine and Research gas chromatography-mass spectrophotometry hyperammonemia metabolic acidosis organic aciduria tandem mass spectrometry |
| title | Methylmalonic Acidemia- A Rare Inborn Error of Metabolism |
| title_full | Methylmalonic Acidemia- A Rare Inborn Error of Metabolism |
| title_fullStr | Methylmalonic Acidemia- A Rare Inborn Error of Metabolism |
| title_full_unstemmed | Methylmalonic Acidemia- A Rare Inborn Error of Metabolism |
| title_short | Methylmalonic Acidemia- A Rare Inborn Error of Metabolism |
| title_sort | methylmalonic acidemia a rare inborn error of metabolism |
| topic | gas chromatography-mass spectrophotometry hyperammonemia metabolic acidosis organic aciduria tandem mass spectrometry |
| url | http://www.ijnmr.net/articles/PDF/2126/4-%2017247_F(P)_PF1(Vsu_Om)_PFA(Om)_PF2(PVSU).pdf |
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