Analysis of clinical phenotype and ACAT1 gene mutation in a family affected with beta-ketothiolase deficiency
OBJECTIVE: To investigate the clinical phenotype and ACAT1 gene mutation in a family affected with beta-ketothiolase deficiency (BKTD).
METHODS: Clinical features and laboratory test data were collected. The probands were monozygotic twin brothers. Genomic DNA was isolated from peripheral blood leukocytes obtained from the probands and their family members. Molecular genetic testing of the ACAT1 gene was carried out.
RESULTS: The probands have presented with fever, vomiting and severe ketoacidosis. By arterial blood gas testing, pH was determined to be 7.164, bicarbonate was 4.0 mmol/L, and urine ketone was ++++. Urinary organic acid gas chromatography-mass spectrometry analysis showed excessive excretion of 3-hydroxybutyric acid, 2-methyl-3-hydroxybutyric acid and tiglylglycine. Increased 3-hydroxybutyrylcarnitine (C4-OH), tiglylcarnitine(C5:1) and 3-hydroxyisovalerylcarnitine (C5-OH) levels. The clinical phenotype of proband's parents were both normal, but an elder sister turned out to be an affected patient. Genetic analysis has identified two heterozygous mutations [c.622C>T(p.R208X) and c.653C>T (p.S218F)] in the proband, which were respectively detected in the mother and father. The c.653C>T (p.S218F) mutation was not found among the 100 healthy controls and has not been included in the Human Gene Mutation Database(HGMD).
CONCLUSION: The primary clinical manifestations of BKTD is ketoacidosis. Urine organic acid and blood acylcarnitine analyses play an important role in the diagnosis of the disease. The compound heterozygous of ACAT1 gene mutations probably underlie the BKTD in our patient.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2016 |
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| Erschienen: |
2016 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:33 |
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| Enthalten in: |
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 33(2016), 3 vom: 06. Juni, Seite 286-91 |
| Sprache: |
Chinesisch |
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| Beteiligte Personen: |
Wen, Pengqiang [VerfasserIn] |
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| Links: |
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| Themen: |
ACAT1 protein, human |
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| Anmerkungen: |
Date Completed 02.08.2016 Date Revised 06.06.2016 published: Print Citation Status MEDLINE |
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| doi: |
10.3760/cma.j.issn.1003-9406.2016.03.002 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM261082957 |
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| 041 | |a chi | ||
| 100 | 1 | |a Wen, Pengqiang |e verfasserin |4 aut | |
| 245 | 1 | 0 | |a Analysis of clinical phenotype and ACAT1 gene mutation in a family affected with beta-ketothiolase deficiency |
| 264 | 1 | |c 2016 | |
| 336 | |a Text |b txt |2 rdacontent | ||
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| 500 | |a Date Completed 02.08.2016 | ||
| 500 | |a Date Revised 06.06.2016 | ||
| 500 | |a published: Print | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a OBJECTIVE: To investigate the clinical phenotype and ACAT1 gene mutation in a family affected with beta-ketothiolase deficiency (BKTD) | ||
| 520 | |a METHODS: Clinical features and laboratory test data were collected. The probands were monozygotic twin brothers. Genomic DNA was isolated from peripheral blood leukocytes obtained from the probands and their family members. Molecular genetic testing of the ACAT1 gene was carried out | ||
| 520 | |a RESULTS: The probands have presented with fever, vomiting and severe ketoacidosis. By arterial blood gas testing, pH was determined to be 7.164, bicarbonate was 4.0 mmol/L, and urine ketone was ++++. Urinary organic acid gas chromatography-mass spectrometry analysis showed excessive excretion of 3-hydroxybutyric acid, 2-methyl-3-hydroxybutyric acid and tiglylglycine. Increased 3-hydroxybutyrylcarnitine (C4-OH), tiglylcarnitine(C5:1) and 3-hydroxyisovalerylcarnitine (C5-OH) levels. The clinical phenotype of proband's parents were both normal, but an elder sister turned out to be an affected patient. Genetic analysis has identified two heterozygous mutations [c.622C>T(p.R208X) and c.653C>T (p.S218F)] in the proband, which were respectively detected in the mother and father. The c.653C>T (p.S218F) mutation was not found among the 100 healthy controls and has not been included in the Human Gene Mutation Database(HGMD) | ||
| 520 | |a CONCLUSION: The primary clinical manifestations of BKTD is ketoacidosis. Urine organic acid and blood acylcarnitine analyses play an important role in the diagnosis of the disease. The compound heterozygous of ACAT1 gene mutations probably underlie the BKTD in our patient | ||
| 650 | 4 | |a English Abstract | |
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a Research Support, Non-U.S. Gov't | |
| 650 | 7 | |a Acetyl-CoA C-Acyltransferase |2 NLM | |
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| 700 | 1 | |a Chen, Zhanling |e verfasserin |4 aut | |
| 700 | 1 | |a Wang, Guobing |e verfasserin |4 aut | |
| 700 | 1 | |a Su, Zhe |e verfasserin |4 aut | |
| 700 | 1 | |a Zhang, Xiuwei |e verfasserin |4 aut | |
| 700 | 1 | |a Tang, Gen |e verfasserin |4 aut | |
| 700 | 1 | |a Cui, Dong |e verfasserin |4 aut | |
| 700 | 1 | |a Liu, Xiaohong |e verfasserin |4 aut | |
| 700 | 1 | |a Li, Chengrong |e verfasserin |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics |d 1998 |g 33(2016), 3 vom: 06. Juni, Seite 286-91 |w (DE-627)NLM093687478 |x 1003-9406 |7 nnns |
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