Leucinosis, or maple syrup urine disease (lecture and a clinical case)
Maple syrup urine disease (leucinosis, short-chain ketoaciduria, branched-chain disease, branched-chain ketonuria) is an autosomal recessive disorder which is a consequence of the deficient branched-chain alpha ketoacid dehydrogenase complex. There are five subtypes of the disease: classical, interm...
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| Format: | Article |
| Language: | Russian |
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MONIKI
2020-10-01
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| Series: | Alʹmanah Kliničeskoj Mediciny |
| Subjects: | |
| Online Access: | https://www.almclinmed.ru/jour/article/view/1271 |
| _version_ | 1818619140941807616 |
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| author | Ju. A. Tsareva N. I. Zryachkin M. A. Kuznetsova E. V. Bogacheva |
| author_facet | Ju. A. Tsareva N. I. Zryachkin M. A. Kuznetsova E. V. Bogacheva |
| author_sort | Ju. A. Tsareva |
| collection | DOAJ |
| description | Maple syrup urine disease (leucinosis, short-chain ketoaciduria, branched-chain disease, branched-chain ketonuria) is an autosomal recessive disorder which is a consequence of the deficient branched-chain alpha ketoacid dehydrogenase complex. There are five subtypes of the disease: classical, intermediate, intermittent, thiamine-dependent and E3-deficient. Leucinosis is characterized by high plasma levels of branched-chain amino acids (leucine, isoleucine and valine) and high urine levels of branched-chain ketoacids, as well as of lactate and pyruvate. Tandem mass spectrometry can be used as a screening method in newborns. Mild disease cannot be identified at screening. The diagnosis should be based on tandem mass spectrometry of a blood sample and aminoacid analysis by gas chromatography of a urine sample. Prenatal diagnosis requires molecular genetic tests. Treatment of maple syrup urine disease is aimed at normalization of plasma branched-chain amino acids levels and includes two main components, namely, life-long diet therapy and active treatment of acute metabolic deterioration episodes. A favorable course of the disease is possible only with early (pre-symptomatic) initiation of treatment. The development of cognitive functions depends on plasma leucine levels. We present a clinical case of delayed diagnosis of leucinosis, despite its early clinical manifestation, leading to irreversible consequences for the patient. |
| first_indexed | 2024-12-16T17:32:46Z |
| format | Article |
| id | doaj.art-f8db8aba49384d8b85feec4da4a5ca97 |
| institution | Directory Open Access Journal |
| issn | 2072-0505 2587-9294 |
| language | Russian |
| last_indexed | 2024-12-16T17:32:46Z |
| publishDate | 2020-10-01 |
| publisher | MONIKI |
| record_format | Article |
| series | Alʹmanah Kliničeskoj Mediciny |
| spelling | doaj.art-f8db8aba49384d8b85feec4da4a5ca972022-12-21T22:22:54ZrusMONIKIAlʹmanah Kliničeskoj Mediciny2072-05052587-92942020-10-0148425426210.18786/2072-0505-2020-48-018718Leucinosis, or maple syrup urine disease (lecture and a clinical case)Ju. A. Tsareva0N. I. Zryachkin1M. A. Kuznetsova2E. V. Bogacheva3Saratov State Medical University named after V.I. RazumovskySaratov State Medical University named after V.I. RazumovskySaratov State Medical University named after V.I. RazumovskyAtkarsk District HospitalMaple syrup urine disease (leucinosis, short-chain ketoaciduria, branched-chain disease, branched-chain ketonuria) is an autosomal recessive disorder which is a consequence of the deficient branched-chain alpha ketoacid dehydrogenase complex. There are five subtypes of the disease: classical, intermediate, intermittent, thiamine-dependent and E3-deficient. Leucinosis is characterized by high plasma levels of branched-chain amino acids (leucine, isoleucine and valine) and high urine levels of branched-chain ketoacids, as well as of lactate and pyruvate. Tandem mass spectrometry can be used as a screening method in newborns. Mild disease cannot be identified at screening. The diagnosis should be based on tandem mass spectrometry of a blood sample and aminoacid analysis by gas chromatography of a urine sample. Prenatal diagnosis requires molecular genetic tests. Treatment of maple syrup urine disease is aimed at normalization of plasma branched-chain amino acids levels and includes two main components, namely, life-long diet therapy and active treatment of acute metabolic deterioration episodes. A favorable course of the disease is possible only with early (pre-symptomatic) initiation of treatment. The development of cognitive functions depends on plasma leucine levels. We present a clinical case of delayed diagnosis of leucinosis, despite its early clinical manifestation, leading to irreversible consequences for the patient.https://www.almclinmed.ru/jour/article/view/1271maple syrup urine diseasebranched-chain ketoaciduriaketoacid decarboxylase deficiency |
| spellingShingle | Ju. A. Tsareva N. I. Zryachkin M. A. Kuznetsova E. V. Bogacheva Leucinosis, or maple syrup urine disease (lecture and a clinical case) Alʹmanah Kliničeskoj Mediciny maple syrup urine disease branched-chain ketoaciduria ketoacid decarboxylase deficiency |
| title | Leucinosis, or maple syrup urine disease (lecture and a clinical case) |
| title_full | Leucinosis, or maple syrup urine disease (lecture and a clinical case) |
| title_fullStr | Leucinosis, or maple syrup urine disease (lecture and a clinical case) |
| title_full_unstemmed | Leucinosis, or maple syrup urine disease (lecture and a clinical case) |
| title_short | Leucinosis, or maple syrup urine disease (lecture and a clinical case) |
| title_sort | leucinosis or maple syrup urine disease lecture and a clinical case |
| topic | maple syrup urine disease branched-chain ketoaciduria ketoacid decarboxylase deficiency |
| url | https://www.almclinmed.ru/jour/article/view/1271 |
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