scholarly journals 2-methylacetoacetyl-coenzyme A thiolase (beta-ketothiolase) deficiency: one disease - two pathways

2019 ◽  
Author(s):  
Sarah Catharina Grünert ◽  
Jörn Oliver Sass
Keyword(s):  
Ketone Body ◽  
Autosomal Recessive ◽  
Coenzyme A ◽  
Neonatal Period ◽  
Clinical Course ◽  
Autosomal Recessive Disorder ◽  
Favourable Outcome ◽  
Psychomotor Development ◽  
Metabolic Decompensation ◽  
Organic Acidurias

Abstract Background: 2-methylacetoacetyl-coenzyme A thiolase deficiency (MATD; deficiency of mitochondrial acetoacetyl-coenzyme A thiolase T2/ “beta-ketothiolase”) is an autosomal recessive disorder of ketone body utilization and isoleucine degradation due to mutations in ACAT1. Methods: We performed a systematic literature search for all available clinical descriptions of patients with MATD. 244 patients were identified and included in this analysis. Clinical course and biochemical data are presented and discussed. Results: For 89.6 % of patients at least one acute metabolic decompensation was reported. Age at first symptoms ranged from 2 days to 8 years (median 12 months). More than 82% of patients presented in the first two years of life, while manifestation in the neonatal period was the exception (3.4%). 77.0% (157 of 204 patients) of patients showed normal psychomotor development without neurologic abnormalities.Conclusion: This comprehensive data analysis provides a systematic overview on all cases with MATD identified in the literature. It demonstrates that MATD is a rather benign disorder with often favourable outcome, when compared with many other organic acidurias.

scholarly journals 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: One disease- many faces

2020 ◽  
Author(s):  
Sarah Catharina Grünert ◽  
Jörn Oliver Sass
Keyword(s):  
Autosomal Recessive ◽  
Coenzyme A ◽  
Autosomal Recessive Disorder ◽  
First Year ◽  
Metabolic Decompensation ◽  
Term Outcome ◽  
Long Term Outcome ◽  
Lyase Deficiency ◽  
First Year Of Life

Abstract Background 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency (HMGCLD) is an autosomal recessive disorder of ketogenesis and leucine degradation due to mutations in HMGCL . Method We performed a systematic literature search to identify all published cases. 211 patients of whom relevant clinical data were available were included in this analysis. Clinical course, biochemical findings and mutation data are highlighted and discussed. An overview on all published HMGCL variants is provided. Results More than 95 % of patients presented with acute metabolic decompensation. Most patients manifested within the first year of life, 42.4 % already neonatally. Very few individuals remained asymptomatic. The neurologic long-term outcome was favorable with 62.6 % of patients showing normal development. Conclusion This comprehensive data analysis provides a systematic overview on all published cases with HMGCLD including a list of all known HMGCL mutations.

scholarly journals 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: One disease- many faces

2019 ◽  
Author(s):  
Sarah Catharina Grünert ◽  
Jörn Oliver Sass
Keyword(s):  
Autosomal Recessive ◽  
Coenzyme A ◽  
Autosomal Recessive Disorder ◽  
First Year ◽  
Metabolic Decompensation ◽  
Term Outcome ◽  
Long Term Outcome ◽  
Lyase Deficiency ◽  
First Year Of Life

Abstract Background 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency (HMGCLD) is an autosomal recessive disorder of ketogenesis and leucine degradation due to mutations in HMGCL .Method We performed a systematic literature search to identify all published cases. 211 patients of whom relevant clinical data were available were included in this analysis. Clinical course, biochemical findings and mutation data are highlighted and discussed. An overview on all published HMGCL variants is provided.Results More than 95% of patients presented with acute metabolic decompensation. Most patients manifested within the first year of life, 42.4% already neonatally. Very few individuals remained asymptomatic. The neurologic long-term outcome was favorable with 62.6% of patients showing normal development.Conclusion This comprehensive data analysis provides a systematic overview on all published cases with HMGCLD including a list of all known HMGCL mutations.

A Case of Congenital Glucose Galactose Malabsorption with a New Mutation in the SLC5A1 Gene

2020 ◽  
Author(s):  
Hasan Akduman ◽  
Dilek Dilli ◽  
Serdar Ceylaner
Keyword(s):  
Mutation Analysis ◽  
Autosomal Recessive ◽  
Glucose Transporter ◽  
Neonatal Period ◽  
Autosomal Recessive Disorder ◽  
Homozygous Mutation ◽  
New Mutation ◽  
Early Neonatal Period ◽  
Sodium Dependent ◽  
Hypernatremic Dehydration

AbstractCongenital glucose-galactose malabsorption (CGGM) is an autosomal recessive disorder originating from an abnormal transporter mechanism in the intestines. It was sourced from a mutation in the SLC5A1 gene, which encodes a sodium-dependent glucose transporter. Here we report a 2-day-old girl with CGGM who presented with severe hypernatremic dehydration due to diarrhea beginning in the first hours of life. Mutation analysis revealed a novel homozygous mutation NM_000343.3 c.127G > A (p.Gly43Arg) in the SLC5A1 gene. Since CGGM can cause fatal diarrhea in the early neonatal period, timely diagnosis of the disease seems to be essential.

scholarly journals Cardiovascular involvement in alpha-n-acetyl neuraminidase deficiency syndromes (sialidosis type I and II)

2021 ◽  
pp. 1-3
Author(s):  
Priyanka Prasanna ◽  
Chenni S. Sriram ◽  
Sarah H. Rodriguez ◽  
Utkarsh Kohli
Keyword(s):  
Autosomal Recessive ◽  
Ventricular Dysfunction ◽  
Clinical Presentation ◽  
Clinical Course ◽  
Rare Condition ◽  
Autosomal Recessive Disorder ◽  
Left Ventricular ◽  
Type I ◽  
Neonatal Onset ◽  
Cardiovascular Involvement

Abstract Sialidosis, a rare autosomal recessive disorder, is caused by a deficiency of NEU1 encoded enzyme alpha-N-acetyl neuraminidase. We report a premature male with neonatal-onset type II sialidosis which was associated with left ventricular dysfunction. The clinical presentation and subsequent progression which culminated in his untimely death at 16 months of age are succinctly described. Early-onset cardiovascular involvement as noted in this patient is not well characterised. The case report is supplemented by a comprehensive review of the determinants, characteristics, and the clinical course of cardiovascular involvement in this rare condition.

Abetalipoproteinemia Presenting as Severe Vitamin K Deficiency

PEDIATRICS ◽  
1980 ◽  
Vol 65 (1) ◽  
pp. 161-163
Author(s):  
Fernan M. Caballero ◽  
George R. Buchanan
Keyword(s):  
Vitamin K ◽  
Autosomal Recessive ◽  
Neonatal Period ◽  
Chronic Diarrhea ◽  
Autosomal Recessive Disorder ◽  
Vitamin K Deficiency ◽  
History Of ◽  
K Deficiency ◽  
First Time ◽  
To Receive

Vitamin K deficiency has occasionally been observed in infants after the immediate neonatal period when one or more of the following features is present: diet consisting entirely of breast milk, failure to receive prophylactic vitamin K shortly after birth, therapy with broad-spectrum antibiotics, or chronic diarrhea accompanying malabsorption due to cystic fibrosis or to various acquired causes.1-7 In this report we describe for the first time an infant with the uncommon autosomal recessive disorder abetalipoproteinemia whose major presenting manifestation in early infancy was hemorrhage due to vitamin K deficiency. CASE REPORT A 6-week-old baby was brought in for evaluation because of a two- to three-week history of easy bruising.

Beta-ketothiolase deficiency brought with lethargy: Case report

2011 ◽  
Vol 30 (10) ◽  
pp. 1724-1727 ◽  
Author(s):  
Vefik Arica ◽  
Secil Gunher Arica ◽  
Huseyin Dag ◽  
Hatice Onur ◽  
Ömer Obut ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Case Report ◽  
Blood Glucose ◽  
Amino Acid ◽  
Ketone Body ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Branched Chain Amino Acid ◽  
Amino Acid Levels ◽  
Branched Chain

Beta-ketothiolase deficiency is a rare autosomal recessive disorder of isoleucine and ketone body metabolism. This disorder is clinically characterized by ketoacidotic attacks. Ketoacidosis, vomiting, and dehydration, lethargy and coma may be seen during attacks. A 9-month-old girl was admitted to our hospital with acidosis and dehydration. The patient was lethargic. Ketoacidosis was suspected because of acetone odor on her breath. Her blood glucose level was 262 mg/dL and urine ketone was (++++). Branched chain amino acid levels were elevated in her blood sample. Organic acid analysis of urine revealed 2-methylacetoacetyl-CoA thiolase deficiency. This was reported because of rarity of the disease and we should consider it in the differential diagnosis of ketoacidotic episodes.

scholarly journals Hermansky-Pudlak Syndrome Complicated by Pulmonary Fibrosis: Radiologic-Pathologic Correlation and Review of Pulmonary Complications

2014 ◽  
Vol 4 ◽  
pp. 59 ◽  
Author(s):  
Tatiana Kelil ◽  
Jeanne Shen ◽  
Ailbhe C O’Neill ◽  
Stephanie A Howard
Keyword(s):  
Pulmonary Fibrosis ◽  
Disease Severity ◽  
Autosomal Recessive ◽  
Clinical Course ◽  
Autosomal Recessive Disorder ◽  
Pulmonary Complications ◽  
Platelet Dysfunction ◽  
Life Threatening ◽  
Hermansky Pudlak Syndrome

Hermansky–Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by oculocutaneous hypopigmentation, platelet dysfunction, and in many cases, life-threatening pulmonary fibrosis. We report the clinical course, imaging, and postmortem findings of a 38-year-old female with HPS-related progressive pulmonary fibrosis, highlighting the role of imaging in assessment of disease severity and prognosis.

scholarly journals Novel CUL7 biallelic mutations alter the skeletal phenotype of 3M syndrome

2020 ◽  
Vol 7 (1) ◽  
Author(s):  
Nao Takizaki ◽  
Yoshinori Tsurusaki ◽  
Kaoru Katsumata ◽  
Yumi Enomoto ◽  
Hiroaki Murakami ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Neonatal Period ◽  
Autosomal Recessive Disorder ◽  
Facial Features ◽  
Skeletal Changes ◽  
Novel Variants ◽  
Skeletal Phenotype ◽  
Vertebral Bodies ◽  
Biallelic Mutations ◽  
Severe Growth

Abstract3M syndrome is an autosomal recessive disorder characterized by severe growth retardation, distinct facial features, and skeletal changes, including long slender tubular bones and tall vertebral bodies. We report a Japanese patient with 3M syndrome caused by the biallelic novel variants c.1705_1708del and c.1989_1999del of CUL7. Skeletal features were consistent with 3M syndrome in the early neonatal period but became less obvious by 2 years of age.

Isovaleric Acidemia with Promyelocytic Myeloproliferative Syndrome

1999 ◽  
Vol 2 (3) ◽  
pp. 286-291 ◽  
Author(s):  
Enid Gilbert-Barness ◽  
Lewis A. Barness
Keyword(s):  
Autosomal Recessive ◽  
Dehydrogenase Deficiency ◽  
Neonatal Period ◽  
Autosomal Recessive Disorder ◽  
Extramedullary Hematopoiesis ◽  
Fatty Change ◽  
Severe Metabolic Acidosis ◽  
Isovaleric Acidemia ◽  
Myeloproliferative Syndrome ◽  
Branched Chain

Isovaleric acidemia, an autosomal recessive disorder, is due to isovaleryl-coenzyme A dehydrogenase deficiency and is one of the branched-chain aminoacidopathies. Isovaleric acidemia may present in the neonatal period with an acute episode of severe metabolic acidosis, ketosis, and vomiting and may lead to coma and death in the first 2 months of life. This report concerns an infant who presented at 10 days of age because of lethargy, poor feeding, hypothermia, cholestasis, and thrombocytopenia, leukopenia, and profound pancytopenia. Death occurred at 19 days of age. Autopsy showed mild fatty change in the liver and extramedullary hematopoiesis, generalized Escherichia coli sepsis, and myelodysplasia of the bone marrow with arrest of the myeloid series at the promyelocytic stage. The appearance resembled promyelocytic leukemia, but the diagnostic 15:17 translocation was not present. The maturation arrest in granulopoiesis in isovaleric acidemia appears to be most likely due to a direct metabolic effect on granulocyte precursor cells.

scholarly journals Autoimmune polyendocrine syndrome type 1: case report and review of literature

2012 ◽  
Vol 56 (1) ◽  
pp. 54-66 ◽  
Author(s):  
Fernanda Guimarães Weiler ◽  
Magnus R. Dias-da-Silva ◽  
Marise Lazaretti-Castro
Keyword(s):  
Autosomal Recessive ◽  
Clinical Course ◽  
Clinical Manifestations ◽  
Autosomal Recessive Disorder ◽  
Syndrome Type ◽  
Adrenal Failure ◽  
Review Of Literature ◽  
Autoimmune Polyendocrine Syndrome

Autoimmune polyendocrine syndrome type 1 (APECED) is a rare autosomal recessive disorder characterized by autoimmune multiorgan attack. The disease is caused by mutations in the autoimmune regulator gene (AIRE), resulting in defective AIRE protein, which is essential for selftolerance. Clinical manifestations are widely variable. Although the classic triad is composed by mucocutaneous candidiasis, hypoparathyroidism and adrenal failure, many other components may develop. Treatment is based on supplementation of the various deficiencies, and patients require regular follow-up throughout their lifespan. This article describes the case of a patient with the disease, and reviews literature data on the epidemiology, clinical course, immunogenetic aspects, diagnosis and treatment of the syndrome.

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