We report a patient from a consanguineous family who presented with transient acute liver failure and biochemical patterns suggestive of disturbed urea cycle and mitochondrial function, for whom conventional genetic and metabolic investigations for acute[ncbi.nlm.nih.gov]
Milder cases present during childhood with fewer and less serious liver problems. Infections and fasting may trigger the symptoms. [2] [3] PEPCK1 deficiency inheritance is autosomal recessive.[rarediseases.info.nih.gov]
Acronym M-PEPCKD Disclaimer Any medical or genetic information present in this entry is provided for research, educational and informational purposes only.[uniprot.org]
Early chapters present differential diagnosis and management approaches to common overarching problems such as coma, headache, and elevated intracranial pressure, followed by chapters focusing on the evaluation and management of specific conditions including[books.google.de]
Clinical characteristics include hypotonia, hepatomegaly, failure to thrive, lactic acidosis and hypoglycemia. Autopsy reveals fatty infiltration of both the liver and kidneys. The disorder is transmitted as an autosomal recessive trait.[uniprot.org]
In severe cases symptoms may include persistent and very low levels of blood's sugar in newborns (neonatal hypoglycemia ), failure to thrive, build-up of lactic acid in the blood ( lactic acidosis ), liver enlargement (hepatomegaly) and liver failure[rarediseases.info.nih.gov]
Original Investigations 95 Downloads 23 Citations Abstract A 3-month-old girl presented with anorexia, failure to thrive and drowsiness. She was mildly icteric with hepatomegaly and peripheral oedema.[link.springer.com]
Failure to thrive. Metabolic acidosis from accumulation of lactic acid. Mild icterus with hepatomegaly. Generalised muscle weakness.[patient.info]
It presents with hypoglycemia, failure to thrive, metabolic acidosis, muscle weakness, and hepatomegaly.[icd10data.com]
Imaging CXR: extreme cardiomegaly and congestive heartfailure. Gross Pathology Significant increase in size and weight of heart (up to five times normal); to lesser extent, hepatomegaly.[kelmacmedical.us]
Imaging CXR: extreme cardiomegaly and congestive heart failure. Gross Pathology Significant increase in size and weight of heart (up to five times normal); to lesser extent, hepatomegaly.[kelmacmedical.us]
PE Skin erythema with vesicles and bullae on sun-exposed areas; skin at these sites is friable and shows presence of whitish plaques ("milia") (due to photosensitizing effect of uroporphyrin); skin of face also shows hypertrichosis and hyperpig-mentation[kelmacmedical.us]
PE Skin erythema with vesicles and bullae on sun-exposed areas; skin at these sites is friable and shows presence of whitish plaques ("milia") (due to photosensitizing effect of uroporphyrin); skin of face also shows hypertrichosis and hyperpig-mentation[kelmacmedical.us]
ECG: short P-R; wide QRS; left-axisdeviation. Imaging CXR: extreme cardiomegaly and congestive heart failure. Gross Pathology Significant increase in size and weight of heart (up to five times normal); to lesser extent, hepatomegaly.[kelmacmedical.us]
In severe cases symptoms may include persistent and very low levels of blood's sugar in newborns (neonatal hypoglycemia ), failure to thrive, build-up of lactic acid in the blood ( lactic acidosis ), liver enlargement (hepatomegaly) and liver failure[rarediseases.info.nih.gov]
[…] yes no Disclaimer: This article is for information only and should not be used for the diagnosis or treatment of medical conditions.[patient.info]
Treatment Poor prognosis; associated with early death from cardiopulmonary failure. Discussion Pompe's disease is a type II glycogen storage disease (generalized).[kelmacmedical.us]
In the area of metabolic disease, he is developing new treatments for maple syrup urine disease and urea cycle disorders. Fernando Scaglia, MD, is a Professor in the Department of Molecular and Human Genetics at Baylor College of Medicine.[books.google.com]
It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice .[uniprot.org]
Walsh, along with a multi-disciplinary team of contributors guide you through the sweeping developments in diagnosis and treatment of the mother fetus, and neonate.[books.google.de]
Differential diagnosis Other causes of neonatal hypoglycaemia - for example: Glucose-6-phosphatase deficiency Fructose-1,6,-diphosphatase deficiency Pyruvate carboxylase deficiency Management and prognosis Presumably, regular feeding would prevent or[patient.info]
Treatment Poor prognosis; associated with early death from cardiopulmonary failure. Discussion Pompe's disease is a type II glycogen storage disease (generalized).[kelmacmedical.us]
Consultations Evaluation of the patient by an expert in metabolic and genetic disease is necessary to confirm the diagnosis, guide appropriate treatment, and determine prognosis. Enzyme testing and DNA confirmation are available.[emedicine.medscape.com]
Etiology The gene that encodes pyruvate carboxylase (PC) has been localized to chromosome band 11q13.4-q13.5. PC deficiency is inherited from parents by an autosomal recessive inheritance pattern.[emedicine.medscape.com]
Design & Methods : Two siblings, age 10 years and 3 years, with developmental delay, hypotonia, strabismus, thinning of the corpus callosum and failure to thrive were thoroughly investigated for possible genetic and metabolic etiologies.[garrodsymposium.com]
Neonatal hepatic syndrome 187 Severe hepatocellular dysfunction 189 Hypoglycemia 192 Nonimmune fetal hydrops 193 Initial management 194 Summary comments 196 Biblipgraphy 197 Newborn screening 198 Screening for medical intervention 199 Screening to answer epidemiological[books.google.com]
Two types of phosphoenolpyruvate carboxykinase exist: PCK1, PEPCK1 - soluble in the cytosol. [ 1 ] PCK2, PEPCK2 - soluble in the mitochondria. [ 2 ] Epidemiology [ 1, 2 ] Both conditions are extremely rare. They have been reported in siblings.[patient.info]
Relevant External Links for PCK1 Genetic Association Database (GAD) PCK1 Human Genome Epidemiology (HuGE) Navigator PCK1 Atlas of Genetics and Cytogenetics in Oncology and Haematology: PCK1 No data available for Genatlas for PCK1 Gene A Leu184Val polymorphism[genecards.org]
The investigators examined 9 novel mutations of the PC gene in 5 unrelated patients, 2 of whom had type A and 3 of whom had type B PC deficiency. [4, 5] Epidemiology Pyruvate carboxylase (PC) deficiency is a rare disorder, with an approximate incidence[emedicine.medscape.com]
Haller RG, Henriksson KG, Jorfeldt L, et al. (1991) Deficiency of skeletal muscle succinate dehydrogenase and aconitase: Pathophysiology of exercise in a novel human muscle oxidative defect. J Clin Invest 88: 1197-1206. [books.google.com]
Molecular and Systemic Pathophysiology Suspected deficiency of one enzyme has not been easy to prove and only a small number of patients with putative PEPCK deficiency has been reported [ 2 , 3 ]. There is no clear clinical... References 1.[link.springer.com]
Pathophysiology Pyruvate carboxylase (PC) deficiency affects metabolism in several major ways.[emedicine.medscape.com]
Long-term management comprising avoidance of fasting with the provision of a glucose polymer emergency regimen for illness management may be sufficient to prevent future episodes of liver failure.[ncbi.nlm.nih.gov]
197 - Genetic counselling is the process by which patients or relatives at risk of a disorder that may be hereditary are advised of the consequences of the disorder, the probability of developing and transmitting it and of ways in which this may be prevented[books.google.com]
Differential diagnosis Other causes of neonatal hypoglycaemia - for example: Glucose-6-phosphatase deficiency Fructose-1,6,-diphosphatase deficiency Pyruvate carboxylase deficiency Management and prognosis Presumably, regular feeding would prevent or[patient.info]
The production of citrate, the first substrate in the citric acid cycle, is limited, thus preventing the citric acid cycle from functioning, shown in the figure below.[emedicine.medscape.com]
You agree to immediately notify us in the event you determine, or have reason to believe, that an unauthorized party has gained access to the Materials and to take all reasonable steps, both to ensure that such activity ceases and to prevent any recurrence[pediatriccare.solutions.aap.org]