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Rapidly Progressive Spastic Paraplegia Due to Hyperhomocysteinemia in Child with MTHFR Gene Mutation and Mitochondrial Complex I Deficiency: A Rare Association
MTHFR enzyme deficiency is an autosomal-recessive inborn error of folate metabolism. The deficiency cause defect in the remethylation of homocysteine to methionine leading to increased blood levels of homocysteine. Hyperhomocysteinemia in infants cause seizures, hypotonia, apnoea, microcephaly, prog...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wolters Kluwer - Medknow
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8706591/ https://www.ncbi.nlm.nih.gov/pubmed/35018185 http://dx.doi.org/10.4103/jpn.JPN_96_20 |
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author | Mahale, Rohan R. Gautam, Jyothi Arunachal, Gautam Alappati, Sandhya Varghese, Nibu Kovoor, Jennifer Mailankody, Pooja Padmanabha, Hansashree Pavagada, Mathuranath |
author_facet | Mahale, Rohan R. Gautam, Jyothi Arunachal, Gautam Alappati, Sandhya Varghese, Nibu Kovoor, Jennifer Mailankody, Pooja Padmanabha, Hansashree Pavagada, Mathuranath |
author_sort | Mahale, Rohan R. |
collection | PubMed |
description | MTHFR enzyme deficiency is an autosomal-recessive inborn error of folate metabolism. The deficiency cause defect in the remethylation of homocysteine to methionine leading to increased blood levels of homocysteine. Hyperhomocysteinemia in infants cause seizures, hypotonia, apnoea, microcephaly, progressing to coma and death if untreated whereas in childhood onset it causes developmental delay, seizures, psychiatric disturbances, spastic gait, and ataxia. We report a 10-year-old girl with rapidly progressive spastic paraplegia requiring wheelchair ambulation within 3 months of symptom onset with behavioral disturbances. Plasma homocysteine and plasma lactate were high with normal vitamin B12 levels. Clinical exome sequencing showed homozygous missense mutation in MTHFR gene which was likely pathogenic variant. Respiratory chain complex assay from muscle sample showed reduced complex 1 deficiency (<20%). |
format | Online Article Text |
id | pubmed-8706591 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Wolters Kluwer - Medknow |
record_format | MEDLINE/PubMed |
spelling | pubmed-87065912022-01-10 Rapidly Progressive Spastic Paraplegia Due to Hyperhomocysteinemia in Child with MTHFR Gene Mutation and Mitochondrial Complex I Deficiency: A Rare Association Mahale, Rohan R. Gautam, Jyothi Arunachal, Gautam Alappati, Sandhya Varghese, Nibu Kovoor, Jennifer Mailankody, Pooja Padmanabha, Hansashree Pavagada, Mathuranath J Pediatr Neurosci Case Report MTHFR enzyme deficiency is an autosomal-recessive inborn error of folate metabolism. The deficiency cause defect in the remethylation of homocysteine to methionine leading to increased blood levels of homocysteine. Hyperhomocysteinemia in infants cause seizures, hypotonia, apnoea, microcephaly, progressing to coma and death if untreated whereas in childhood onset it causes developmental delay, seizures, psychiatric disturbances, spastic gait, and ataxia. We report a 10-year-old girl with rapidly progressive spastic paraplegia requiring wheelchair ambulation within 3 months of symptom onset with behavioral disturbances. Plasma homocysteine and plasma lactate were high with normal vitamin B12 levels. Clinical exome sequencing showed homozygous missense mutation in MTHFR gene which was likely pathogenic variant. Respiratory chain complex assay from muscle sample showed reduced complex 1 deficiency (<20%). Wolters Kluwer - Medknow 2021 2021-07-12 /pmc/articles/PMC8706591/ /pubmed/35018185 http://dx.doi.org/10.4103/jpn.JPN_96_20 Text en Copyright: © 2021 Journal of Pediatric Neurosciences https://creativecommons.org/licenses/by-nc-sa/4.0/This is an open access journal, and articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms. |
spellingShingle | Case Report Mahale, Rohan R. Gautam, Jyothi Arunachal, Gautam Alappati, Sandhya Varghese, Nibu Kovoor, Jennifer Mailankody, Pooja Padmanabha, Hansashree Pavagada, Mathuranath Rapidly Progressive Spastic Paraplegia Due to Hyperhomocysteinemia in Child with MTHFR Gene Mutation and Mitochondrial Complex I Deficiency: A Rare Association |
title | Rapidly Progressive Spastic Paraplegia Due to Hyperhomocysteinemia in Child with MTHFR Gene Mutation and Mitochondrial Complex I Deficiency: A Rare Association |
title_full | Rapidly Progressive Spastic Paraplegia Due to Hyperhomocysteinemia in Child with MTHFR Gene Mutation and Mitochondrial Complex I Deficiency: A Rare Association |
title_fullStr | Rapidly Progressive Spastic Paraplegia Due to Hyperhomocysteinemia in Child with MTHFR Gene Mutation and Mitochondrial Complex I Deficiency: A Rare Association |
title_full_unstemmed | Rapidly Progressive Spastic Paraplegia Due to Hyperhomocysteinemia in Child with MTHFR Gene Mutation and Mitochondrial Complex I Deficiency: A Rare Association |
title_short | Rapidly Progressive Spastic Paraplegia Due to Hyperhomocysteinemia in Child with MTHFR Gene Mutation and Mitochondrial Complex I Deficiency: A Rare Association |
title_sort | rapidly progressive spastic paraplegia due to hyperhomocysteinemia in child with mthfr gene mutation and mitochondrial complex i deficiency: a rare association |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8706591/ https://www.ncbi.nlm.nih.gov/pubmed/35018185 http://dx.doi.org/10.4103/jpn.JPN_96_20 |
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