scholarly journals A Homozygous Mutation in LYRM 7/ MZM 1 L Associated with Early Onset Encephalopathy, Lactic Acidosis, and Severe Reduction of Mitochondrial Complex III Activity

2013 ◽  
Vol 34 (12) ◽  
pp. 1619-1622 ◽  
Author(s):  
Federica Invernizzi ◽  
Marco Tigano ◽  
Cristina Dallabona ◽  
Claudia Donnini ◽  
Ileana Ferrero ◽  
...  
Keyword(s):  
Lactic Acidosis ◽  
Early Onset ◽  
Complex Iii ◽  
Homozygous Mutation ◽  
Mitochondrial Complex ◽  
Severe Reduction

UQCRC2 mutation in a patient with mitochondrial complex III deficiency causing recurrent liver failure, lactic acidosis and hypoglycemia

2017 ◽  
Vol 62 (7) ◽  
pp. 729-731 ◽  
Author(s):  
Pauline Gaignard ◽  
Didier Eyer ◽  
Elise Lebigot ◽  
Christophe Oliveira ◽  
Patrice Therond ◽  
...  
Keyword(s):  
Lactic Acidosis ◽  
Liver Failure ◽  
Complex Iii ◽  
Mitochondrial Complex

A Patient with Recurrent Severe Hypoglycemic Attacks and Mitochondrial Complex III Deficiency, Nuclear Type 3: a Novel UQCRB Variant

2021 ◽  
pp. 1-5
Author(s):  
Merve Koç Yekedüz ◽  
Ümmühan Öncül ◽  
Engin Köse ◽  
Fatih Ezgü ◽  
Fatma Tuba Eminoğlu
Keyword(s):  
Metabolic Acidosis ◽  
Lactic Acidosis ◽  
Glycogen Storage ◽  
Pathogenic Variant ◽  
Complex Iii ◽  
Acid Oxidation ◽  
Mitochondrial Complex ◽  
Glycogen Storage Diseases ◽  
Common Causes ◽  
Type 3

Common causes of hypoglycemia include hyperinsulinism, hormonal deficiencies, fatty acid oxidation disorders, and glycogen storage diseases; however, rare causes should also be considered for the condition. Mitochondrial complex III deficiency shows an autosomal recessive or a mitochondrial inheritance pattern. To date, mitochondrial complex III deficiency, nuclear type 3 attributable to a pathogenic variant of the <i>UQCRB</i> gene (MIM 615158) has been identified in only 2 pediatric patients; both presented with hypoglycemia and lactic acidosis. In this paper, we present a patient with mitochondrial complex III deficiency, nuclear type 3, <i>UQCRB</i> variant associated with acute hypoglycemia and lactic acidosis episodes. The male patient was admitted on the first day of life with tachypnea, metabolic acidosis, and hypoglycemia. Up to 10 years of age, he was admitted 7 times with abdominal pain, vomiting, and fever. His blood tests revealed hypoglycemia, metabolic acidosis, and hyperlactatemia. At 10 years of age, a whole-exome sequencing (WES) analysis was performed identifying a homozygous c.309_313delAGAAA (p.Glu104ArgfsTer10) pathogenic variant of the <i>UQCRB</i> gene. Once the common causes of hypoglycemia are excluded, it is essential to perform a WES analysis for other rare causes. Thus, rare disorders such as mitochondrial complex III deficiency can be diagnosed.

Early-onset cerebellar ataxia, myoclonus and hypogonadism in a case of mitochondrial complex III deficiency treated with vitamins K3 and C

1995 ◽  
Vol 242 (4) ◽  
pp. 203-209 ◽  
Author(s):  
A. Toscano ◽  
M. C. Fazio ◽  
G. Vita ◽  
S. Cannav� ◽  
N. Bresolin ◽  
...  
Keyword(s):  
Cerebellar Ataxia ◽  
Early Onset ◽  
Complex Iii ◽  
Mitochondrial Complex

scholarly journals Mitochondrial Complex III Deficiency Associated with a Homozygous Mutation in UQCRQ

2008 ◽  
Vol 82 (5) ◽  
pp. 1211-1216 ◽  
Author(s):  
Ortal Barel ◽  
Zamir Shorer ◽  
Hagit Flusser ◽  
Rivka Ofir ◽  
Ginat Narkis ◽  
...  
Keyword(s):  
Complex Iii ◽  
Homozygous Mutation ◽  
Mitochondrial Complex

A novel homozygous mutation in TREM2 found in a Chinese early-onset dementia family with mild bone involvement

2020 ◽  
Vol 86 ◽  
pp. 201.e1-201.e7 ◽  
Author(s):  
Xiantao Li ◽  
Yimin Sun ◽  
Lingyun Gong ◽  
Li Zheng ◽  
Keliang Chen ◽  
...  
Keyword(s):  
Early Onset ◽  
Bone Involvement ◽  
Homozygous Mutation ◽  
Early Onset Dementia

Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies

2011 ◽  
Vol 43 (3) ◽  
pp. 259-263 ◽  
Author(s):  
Daniele Ghezzi ◽  
Paola Arzuffi ◽  
Mauro Zordan ◽  
Caterina Da Re ◽  
Costanza Lamperti ◽  
...  
Keyword(s):  
Neurological Impairment ◽  
Complex Iii ◽  
Mitochondrial Complex

scholarly journals Mutation in NDUFA13/GRIM19 leads to early onset hypotonia, dyskinesia and sensorial deficiencies, and mitochondrial complex I instability

2015 ◽  
Vol 24 (14) ◽  
pp. 3948-3955 ◽  
Author(s):  
Claire Angebault ◽  
Majida Charif ◽  
Naig Guegen ◽  
Camille Piro-Megy ◽  
Benedicte Mousson de Camaret ◽  
...  
Keyword(s):  
Early Onset ◽  
Complex I ◽  
Mitochondrial Complex I ◽  
Mitochondrial Complex
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