Cargando…

Pyruvate Dehydrogenase Complex Deficiency: An Unusual Cause of Recurrent Lactic Acidosis in a Paediatric Critical Care Unit

Pyruvate dehydrogenase complex deficiency (PDCD) is a rare neurodegenerative disorder associated with abnormal mitochondrial metabolism. Structural brain abnormalities are common in PDCD. A case of a patient with PDCD with an unusual presentation is described. A 20-month-old boy with hypotonia and d...

Descripción completa

Detalles Bibliográficos
Autores principales:	Gupta, Neha, Rutledge, Chrystal
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Sciendo 2019
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6534940/ https://www.ncbi.nlm.nih.gov/pubmed/31161145 http://dx.doi.org/10.2478/jccm-2019-0012

Ejemplares similares

Pyruvate carboxylase deficiency: An underestimated cause of lactic acidosis
por: Habarou, F., et al.
Publicado: (2014)

Pyruvate is a prospective alkalizer to correct hypoxic lactic acidosis
por: Wang, Ying, et al.
Publicado: (2018)

Utility of specific amino acid ratios in screening for pyruvate dehydrogenase complex deficiencies and other mitochondrial disorders associated with congenital lactic acidosis and newborn screening prospects
por: Bedoyan, Jirair K., et al.
Publicado: (2020)

Lactic Acidosis as an Unusual Finding in Undifferentiated Carcinoma
por: Viteri-Noel, Adrian, et al.
Publicado: (2021)

A Rare Case of Type B Neonatal Pyruvate Carboxylase Enzyme Deficiency Presenting With Refractory Lactic Acidosis in the Early Neonatal Period
por: Sharif, Saima, et al.
Publicado: (2022)

Lactate dehydrogenase D is a general dehydrogenase for D-2-hydroxyacids and is associated with D-lactic acidosis
por: Jin, Shan, et al.
Publicado: (2023)

Recurrent lactic acidosis secondary to hand sanitizer ingestion
por: Wilson, M. E., et al.
Publicado: (2015)

A novel null mutation in the pyruvate dehydrogenase phosphatase catalytic subunit gene (PDP1) causing pyruvate dehydrogenase complex deficiency
por: Bedoyan, Jirair K., et al.
Publicado: (2019)

Metformin-associated lactic acidosis in an intensive care unit
por: Peters, Nicolas, et al.
Publicado: (2008)

Unusual Case of Severe Lactic Acidosis in a Liver Transplant Patient
por: Golhar, Shweta Yemul, et al.
Publicado: (2017)

SUN-933 Lactic Acidosis as a Rare and Unusual Presentation of Pheochromocytoma
por: Mohammad, Nazar, et al.
Publicado: (2020)

Hemodialysis for Lactic Acidosis
por: Karthiraj, N., et al.
Publicado: (2017)

Loss of muscle PDH induces lactic acidosis and adaptive anaplerotic compensation via pyruvate-alanine cycling and glutaminolysis
por: Gopal, Keshav, et al.
Publicado: (2023)

The Association of Hypophosphatemia With Resistant Lactic Acidosis in Critical Care Illness
por: Essa, Amr, et al.
Publicado: (2020)

Three Cases of Lactic Acidosis Caused by Biguanides
por: Kuwahara, Masaatsu, et al.
Publicado: (2022)

Metabolic plasticity maintains proliferation in pyruvate dehydrogenase deficient cells
por: Rajagopalan, Kartik N., et al.
Publicado: (2015)

Comparison Between Dichloroacetate and Phenylbutyrate Treatment for Pyruvate Dehydrogenase Deficiency
por: Karissa, Patricia, et al.
Publicado: (2022)

Ketogenic diet in action: Metabolic profiling of pyruvate dehydrogenase deficiency
por: Ogawa, Eri, et al.
Publicado: (2023)

Thiamine Deficiency Leading to Refractory Lactic Acidosis in a Pediatric Patient
por: Teagarden, Alicia M., et al.
Publicado: (2017)

Metformin-Associated Lactic Acidosis
por: Suh, Sunghwan
Publicado: (2015)

Etiology of lactic acidosis in malaria
por: Possemiers, Hendrik, et al.
Publicado: (2021)

Lactic versus nonlactic metabolic acidosis: outcomes in critically ill patients
por: Gunnerson, KJ, et al.
Publicado: (2003)

Recurrent Encephalopathy and Severe Anion Gap Metabolic Acidosis in a Patient with Short Bowel: It Is D-Lactic Acidosis
por: Jain, Avni, et al.
Publicado: (2021)

The Genomic Analysis of Lactic Acidosis and Acidosis Response in Human Cancers
por: Chen, Julia Ling-Yu, et al.
Publicado: (2008)

Unusual Case of Metformin-Associated Lactic Acidosis in Patient with Type 2 Diabetes Mellitus
por: Hai, Pham Dang, et al.
Publicado: (2022)

Oral pyruvate prevents high-intensity interval exercise-induced metabolic acidosis in rats by promoting lactate dehydrogenase reaction
por: Che, Kaixuan, et al.
Publicado: (2023)

Cerebral Developmental Abnormalities in a Mouse with Systemic Pyruvate Dehydrogenase Deficiency
por: Pliss, Lioudmila, et al.
Publicado: (2013)

Pyruvate dehydrogenase deficiency disease detected by the enzyme activity of peripheral leukocytes
por: Ma, YanYan, et al.
Publicado: (2021)

‘Brain Fogginess’ and D-Lactic Acidosis: Probiotics Are Not the Cause
por: Quigley, Eamonn M. M., et al.
Publicado: (2018)

Significant Lactic Acidosis from Albuterol
por: Hockstein, Maxwell, et al.
Publicado: (2018)

Role of the Pyruvate Dehydrogenase Complex in Metabolic Remodeling: Differential Pyruvate Dehydrogenase Complex Functions in Metabolism
por: Park, Sungmi, et al.
Publicado: (2018)

Viekira Pak Induced Fatal Lactic Acidosis: A Case Report of an Unusual Side Effect
por: Abdulsamad, Molham, et al.
Publicado: (2016)

MELAS (Mitochondrial Encephalopathy, Lactic Acidosis and Stroke-Like Episodes)—Usual and Unusual MRI Finding
por: Prabhu, Sameeta M., et al.
Publicado: (2022)

Thiamine Responsive Pyruvate Dehydrogenase Complex Deficiency: A Potentially Treatable Cause of Leigh's Disease
por: Jauhari, Prashant, et al.
Publicado: (2017)

An unusual cause of high anion gap metabolic acidosis: pyroglutamic acidosis
por: Wardell, RJ, et al.
Publicado: (2012)

Pyruvate dehydrogenase activity is required for optimal growth under lipid deficient conditions
por: Rajagopalan, Kartik, et al.
Publicado: (2014)

Ketogenic diet in pyruvate dehydrogenase complex deficiency: short- and long-term outcomes
por: Sofou, Kalliopi, et al.
Publicado: (2017)

Clinical manifestations in two patients with pyruvate dehydrogenase deficiency and long-term survival
por: Yoshida, Takanobu, et al.
Publicado: (2017)

Phenotypic overlap between pyruvate dehydrogenase complex deficiency and FOXG1 syndrome
por: Akaba, Yuichi, et al.
Publicado: (2021)

Cardiac Dysfunction Due to Thiamine Deficiency after Hemodialysis for Biguanide-related Lactic Acidosis
por: Tamaki, Hiroyuki, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_d0t85prde71ocifnih1slfjpi4