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Recurrent ketoacidosis: Is it a ketone metabolism disorder?


Canda, Ebru; Yazıcı, Havva; Er, Esra; Kalkan Uçar, Sema; Gemperle-Britschgi, Corinne; Habif, Sara; Onay, Hüseyin; Sass, Jörn Oliver; Çoker, Mahmut (2018). Recurrent ketoacidosis: Is it a ketone metabolism disorder? Journal of Dr. Behcet Uz Children's Hospital, 8(2-2018):115-121.

Abstract

INTRODUCTION: Two defects of ketogenesis have been reported in the human so far; mitochondrial 3-hydroxy-3-methyl glutaryl CoA synthase (Mhs) and 3-hydroxymethyl-3-glutaryl CoA lyase (HL) deficiencies. Defects of ketone utilization (ketolysis) can be the result of enzyme deficiency of succinyl CoA: 3 oxoacid CoA transferase (SCOT) or methylacetoacetyl CoA thiolase - beta ketothiolase (MAT). Our aim was to evaluate the clinical and laboratory findings of patients who were diagnosed with ketone metabolism disorders.
METHODS: Patients who were diagnosed with ketone metabolism disorders were examined retrospectively.
RESULTS: Four patients had HL deficiency, 3 patients had MAT deficiency and 2 patients had SCOT deficiency. The median age of the patients was 5 years (6 months – 15.5 years) and the mean age of first metabolic decompensation was 7.7 months (22 days - 19 months). A patient with MAT deficiency was asymptomatic and diagnosed by family screening. Two patients developed severe neurological deficit like spastic tetraparesis. It was seen that decompensation attacks developed after poor feeding, vomiting and infections such as gastroenteritis.
DISCUSSION AND CONCLUSION: In the case of unexplained metabolic acidosis attacks, ketone metabolism disorders should be kept in mind. Acute decompensation may occur at different ages, clinical severity may be variable. Early diagnosis and appropriate treatment are very important in terms of mortality and morbidity.

Abstract

INTRODUCTION: Two defects of ketogenesis have been reported in the human so far; mitochondrial 3-hydroxy-3-methyl glutaryl CoA synthase (Mhs) and 3-hydroxymethyl-3-glutaryl CoA lyase (HL) deficiencies. Defects of ketone utilization (ketolysis) can be the result of enzyme deficiency of succinyl CoA: 3 oxoacid CoA transferase (SCOT) or methylacetoacetyl CoA thiolase - beta ketothiolase (MAT). Our aim was to evaluate the clinical and laboratory findings of patients who were diagnosed with ketone metabolism disorders.
METHODS: Patients who were diagnosed with ketone metabolism disorders were examined retrospectively.
RESULTS: Four patients had HL deficiency, 3 patients had MAT deficiency and 2 patients had SCOT deficiency. The median age of the patients was 5 years (6 months – 15.5 years) and the mean age of first metabolic decompensation was 7.7 months (22 days - 19 months). A patient with MAT deficiency was asymptomatic and diagnosed by family screening. Two patients developed severe neurological deficit like spastic tetraparesis. It was seen that decompensation attacks developed after poor feeding, vomiting and infections such as gastroenteritis.
DISCUSSION AND CONCLUSION: In the case of unexplained metabolic acidosis attacks, ketone metabolism disorders should be kept in mind. Acute decompensation may occur at different ages, clinical severity may be variable. Early diagnosis and appropriate treatment are very important in terms of mortality and morbidity.

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Additional indexing

Item Type:Journal Article, not_refereed, original work
Communities & Collections:04 Faculty of Medicine > University Children's Hospital Zurich > Medical Clinic
Dewey Decimal Classification:610 Medicine & health
Language:Turkish
Date:1 January 2018
Deposited On:31 Jan 2019 11:18
Last Modified:31 Jan 2019 12:01
Publisher:EBSCO Publishing
OA Status:Green
Publisher DOI:https://doi.org/10.5222/buchd.2018.115
Official URL:http://www.behcetuzdergisi.com/jvi.asp?pdir=behcetuz&plng=eng&un=BUCHD-99705&look4=

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