A rare cause of mental motor retardation: recessive congenital methemoglobinemia type II
Recessive congenital methemoglobinemia (RCM) is a very rare disorder caused by NADH- cytochrome b5 reductase (cytb5r) deficiency. It has been classified into four types. Type I presents with mild cyanosis due to a significant deficiency of cytb5r in erythrocytes only. In type II, the deficien...
Saved in:
| Main Authors: | , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Hacettepe University Institute of Child Health
2009-04-01
|
| Series: | The Turkish Journal of Pediatrics |
| Online Access: | https://turkjpediatr.org/article/view/2285 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1850237138836127744 |
|---|---|
| author | Deniz Yüksel Nesrin Senbil Deniz Yilmaz Neşe Yarali Y K Yavuz Gürer |
| author_facet | Deniz Yüksel Nesrin Senbil Deniz Yilmaz Neşe Yarali Y K Yavuz Gürer |
| author_sort | Deniz Yüksel |
| collection | DOAJ |
| description |
Recessive congenital methemoglobinemia (RCM) is a very rare disorder caused by NADH- cytochrome b5 reductase (cytb5r) deficiency. It has been classified into four types. Type I presents with mild cyanosis due to a significant deficiency of cytb5r in erythrocytes only. In type II, the deficiency occurs in all tissues and causes growth and mental retardation and other neurological impairments. RCM types I and II are caused by a defect in a single gene, which is located on chromosome 22 (locus DIA 1: q 13.31-qter). Prenatal diagnosis is possible. Cyanosis can be well treated by 200-500 mg of ascorbic acid daily; there is no effective therapy for the progressive neurological impairments. This report presents two siblings with central cyanosis, growth retardation, mental retardation, microcephaly, dystonia and hypertonia diagnosed as RCM type II.
|
| format | Article |
| id | doaj-art-df0ce3d0bcc8457cbd4cbf9abf19119e |
| institution | OA Journals |
| issn | 0041-4301 2791-6421 |
| language | English |
| publishDate | 2009-04-01 |
| publisher | Hacettepe University Institute of Child Health |
| record_format | Article |
| series | The Turkish Journal of Pediatrics |
| spelling | doaj-art-df0ce3d0bcc8457cbd4cbf9abf19119e2025-08-20T02:01:49ZengHacettepe University Institute of Child HealthThe Turkish Journal of Pediatrics0041-43012791-64212009-04-01512A rare cause of mental motor retardation: recessive congenital methemoglobinemia type IIDeniz Yüksel0Nesrin SenbilDeniz YilmazNeşe YaraliY K Yavuz GürerDr. Sami Ulus Child Health and Diseases Training and Research Hospital, Ankara, Turkey. Recessive congenital methemoglobinemia (RCM) is a very rare disorder caused by NADH- cytochrome b5 reductase (cytb5r) deficiency. It has been classified into four types. Type I presents with mild cyanosis due to a significant deficiency of cytb5r in erythrocytes only. In type II, the deficiency occurs in all tissues and causes growth and mental retardation and other neurological impairments. RCM types I and II are caused by a defect in a single gene, which is located on chromosome 22 (locus DIA 1: q 13.31-qter). Prenatal diagnosis is possible. Cyanosis can be well treated by 200-500 mg of ascorbic acid daily; there is no effective therapy for the progressive neurological impairments. This report presents two siblings with central cyanosis, growth retardation, mental retardation, microcephaly, dystonia and hypertonia diagnosed as RCM type II. https://turkjpediatr.org/article/view/2285 |
| spellingShingle | Deniz Yüksel Nesrin Senbil Deniz Yilmaz Neşe Yarali Y K Yavuz Gürer A rare cause of mental motor retardation: recessive congenital methemoglobinemia type II The Turkish Journal of Pediatrics |
| title | A rare cause of mental motor retardation: recessive congenital methemoglobinemia type II |
| title_full | A rare cause of mental motor retardation: recessive congenital methemoglobinemia type II |
| title_fullStr | A rare cause of mental motor retardation: recessive congenital methemoglobinemia type II |
| title_full_unstemmed | A rare cause of mental motor retardation: recessive congenital methemoglobinemia type II |
| title_short | A rare cause of mental motor retardation: recessive congenital methemoglobinemia type II |
| title_sort | rare cause of mental motor retardation recessive congenital methemoglobinemia type ii |
| url | https://turkjpediatr.org/article/view/2285 |
| work_keys_str_mv | AT denizyuksel ararecauseofmentalmotorretardationrecessivecongenitalmethemoglobinemiatypeii AT nesrinsenbil ararecauseofmentalmotorretardationrecessivecongenitalmethemoglobinemiatypeii AT denizyilmaz ararecauseofmentalmotorretardationrecessivecongenitalmethemoglobinemiatypeii AT neseyarali ararecauseofmentalmotorretardationrecessivecongenitalmethemoglobinemiatypeii AT ykyavuzgurer ararecauseofmentalmotorretardationrecessivecongenitalmethemoglobinemiatypeii AT denizyuksel rarecauseofmentalmotorretardationrecessivecongenitalmethemoglobinemiatypeii AT nesrinsenbil rarecauseofmentalmotorretardationrecessivecongenitalmethemoglobinemiatypeii AT denizyilmaz rarecauseofmentalmotorretardationrecessivecongenitalmethemoglobinemiatypeii AT neseyarali rarecauseofmentalmotorretardationrecessivecongenitalmethemoglobinemiatypeii AT ykyavuzgurer rarecauseofmentalmotorretardationrecessivecongenitalmethemoglobinemiatypeii |