Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0162275 (ketonuria)
 553 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 9-year-old spayed female Labrador Retriever was evaluated for anorexia, lethargy, and vomiting of 5 days' duration. Laboratory abnormalities included azotemia, high liver enzyme activities, hyperchloremic metabolic acidosis, glucosuria, ketonuria, proteinuria, and aminoaciduria. These laboratory abnormalities were diagnostic of proximal renal tubular acidosis and Fanconi syndrome. Results of initial and convalescent serologic tests for leptospirosis were negative. The dog was treated with amoxicillin, sodium bicarbonate, and potassium citrate at discharge. Repeated evaluations revealed resolution of the acidosis, azotemia, proteinuria, glucosuria, ketonuria, and high liver enzyme activities. Alkali administration was gradually discontinued, and the dog was clinically normal 8 months after discharge. The dog's clinical condition appeared to have been transient in nature, a phenomenon that is rarely seen in human or veterinary medicine.
 ...
PMID:Transient proximal renal tubular acidosis and Fanconi syndrome in a dog. 1515 30

We report a case of severe ketoacidosis. Initially the patient showed metabolic acidosis, the anion gap was positive and there was neither hyperlactatemia nor intoxication with acid substances. As the rate of glycemia was high (17.8 mmol/L), the diagnosis of diabetic ketoacidosis was proposed. Under treatment with continuous IV injection of insulin, hypoglycemia (1.8 mmol/L) appeared rapidly, while urine bioreactive test was positive for ketonuria, but negative for glycosuria. We finally concluded that it was an alcoholic ketoacidosis. The history of the patient confirmed the diagnosis : chronic alcoholism with recent increased of alcohol intake which provoked vomiting and fasting. This case report shows the difficulty in distinguishing between alcoholic ketoacidosis and diabetic ketoacidosis. We discuss the diagnostic strategy and particularly biologic data in the light of pathophysiologic mechanism of alcoholic ketoacidosis.
 ...
PMID:[A case of alcohol-induced ketoacidosis?]. 1595 Dec 68

MELAS (mitochondrial encephalopathy with lactic acidosis and stroke-like episodes) is a maternally inherited disorder characterized by recurrent cerebral infarctions that do not conform to discreet vascular territories. Here we report on a patient who presented at 7 years of age with loss of consciousness and severe metabolic acidosis following vomiting and dehydration. She developed progressive sensorineural hearing loss, myopathy, ptosis, short stature, and mild developmental delays after normal early development. Biochemical testing identified metabolites characteristic of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency (hexanoylglycine and suberylglycine), but also severe lactic acidemia (10-25 mM) and, in urine, excess of lactic acid, intermediates of the citric cycle, and marked ketonuria, suggesting mitochondrial dysfunction. She progressed rapidly to develop temporary cortical blindness. Brain imaging indicated generalized atrophy, more marked on the left side, in addition to white matter alterations consistent with a mitochondrial disorder. Magnetic resonance angiography indicated occlusion of the left cerebral artery with development of collateral circulation (Moyamoya syndrome). This process worsened over time to involve the other side of the brain. A muscle biopsy indicated the presence of numerous ragged red fibers. Molecular testing confirmed compound heterozygosity for the common mutation in the MCAD gene (985A>G) and a second pathogenic mutation (233T>C). MtDNA testing indicated that the muscle was almost homoplasmic for the 3243A>T mutation in tRNALeu, with a lower mutant load (about 50% heteroplasmy) in blood and skin fibroblasts. These results indicate that mitochondrial disorders may be associated with severe vascular disease resulting in Moyamoya syndrome. The contribution of the concomitant MCAD deficiency to the development of the phenotype in this case is unclear.
 ...
PMID:Progressive cerebral vascular degeneration with mitochondrial encephalopathy. 1820 88

Although nausea and vomiting are common symptoms in early pregnancy, hyperemesis gravidarum (HG) is a rare complication of the first trimester of pregnancy. This condition is defined as intractable vomiting occurring before 20 weeks of gestation, with fluid and electrolyte disturbance, significant weight loss, and ketonuria, leading to hospitalization in the absence of other cause than pregnancy. Some biological disturbances found in HG, such as hyperthyroidism and hepatic cytolysis, which are correlated with the importance of vomiting, are without severe clinical consequences, but may represent diagnostic pitfalls. The aetiology is unknown, but human chorionic gonadotropin hormones likely play the first role. Psychological disturbance is currently seen as the result of the burden and stress of HG rather than a causal factor. Maternal outcome may be severe in the absence of treatment, but pregnancy outcome seems good, as far as the condition has been adequately controlled. The management of HG includes IV rehydration, thiamine supplementation, antiemetic drugs (doxylamine, metoclopramide and chlorpromazine being the first-line choices), and in severe cases, nasogastric or parenteral nutrition. A psychological support is often necessary.
 ...
PMID:[Hyperemesis gravidarum: a rare but potentially severe complication of the first trimester of pregnancy]. 2062 88

We report a case of starvation-induced metabolic ketoacidosis in a previously healthy 29-year-old, nulliparous woman at 32 weeks of gestation. She was admitted to hospital with mild preeclampsia associated with persistent nausea and vomiting that progressed to severe preeclampsia requiring urgent control of hypertension before caesarean delivery. Prolonged and severe vomiting limited oral caloric intake and led to starvation ketoacidosis, characterised by ketonuria and a raised anion gap metabolic acidosis that required intensive care support. Despite significant metabolic derangement the patient appeared clinically well. Intravascular volume was replenished. Fluid restriction used as part of our preeclampsia treatment regimen delayed the therapeutic administration of sufficient dextrose, which rapidly corrected her metabolic derangement when commenced after delivery. Electrolyte supplementation was given to prevent re-feeding syndrome. Both mother and baby were discharged without sequelae.
 ...
PMID:Acute starvation in pregnancy: a cause of severe metabolic acidosis. 2131 80

Methylmalonic acidemia (MMA) is an inherited organic acidemia usually present with recurrent episodes of acute illness. A typical episode is ushered in with ketonuria and vomiting, followed by acidosis, dehydration, and lethargy, leading, in the absence of aggressive treatment, to coma and death. We report an infant with MMA presented with diabetes symptoms. A 13-month-old girl complained of polydipsia, diuresis, and loss of weight. She had clinical signs of diabetic ketoacidosis such as dehydration, deep sighing respiration, smell of ketones, lethargy, and vomiting. Laboratory analysis showed hyperglycemia with acidosis and ketonuria. She was treated with parenteral fluid, electrolyte, and insulin infusion. Two days after her discharge, after having a meal rich in protein, she was brought unconscious with hepatomegaly, severe acidosis, ketonuria, and mild hyperammonemia. The absence of hyperglycemia and the presence of neurologic findings suggested organic acidemia. MMA was diagnosed because of methylmalonic aciduria and elevated C3 carnitine esters. Cranial magnetic resonance imaging (MRI) showed increased uptake of radiocontrast material in the basal ganglia bilaterally. A homozygous mutation in exon 4 of the MMAA gene was found in mutation analysis and confirmed the diagnosis of cblA-deficient MMA. Neurologic regression was improved with treatment of low-protein diet, vitamin B12, and l-carnitine. In patients born to consanguineous parents who admit during infancy with severe acidosis refractory to treatment, organic acidemias should be kept in mind, even they have high blood glucose. The definitive diagnosis is important because it may allow a specific treatment and a favorable evolution to prevent the sequelae.
 ...
PMID:Methylmalonic acidemia mimicking diabetic ketoacidosis in an infant. 2154 77

A 6 yr old pregnant Yorkshire terrier bitch presented 62 days after mating with an acute history of vomiting and coughing. The owners also reported that the dog was polyuric and polydypsic for the last 2 weeks. Complete blood count, serum biochemistry, and urinalysis revealed hyperglycemia, ketonemia, ketonuria, and metabolic acidosis. Diabetic ketoacidosis was diagnosed and after emergency treatment, including fluid therapy, prophylactic antibiotics, and regular insulin, the bitch whelped six healthy normal puppies. Two weeks after treatment, the bitch was clinically normal with normal fructosamine levels. To the authors' knowledge, this is the first reported case of gestational diabetes mellitus in a small breed dog.
 ...
PMID:Gestational diabetes mellitus with diabetic ketoacidosis in a Yorkshire terrier bitch. 2167 34

Fructose-1,6-diphosphatase (FDPase) enzyme deficiency is a rare inherited metabolic disease. Affected patients usually present with metabolic crisis including hypoglycemia, acidosis, ketonuria, and hyperuricemia. A previously healthy 8-month-old male infant presented with fever, vomiting, and hypoactivity. He had tachycardia, tachypnea, and a tendency to sleep. The patient had signs of severe dehydration and shock. Laboratory findings revealed significant lactic acidosis, hyperuricemia, hyperglycemia, elevated liver enzyme level, and hyperlipidemia. The urine analysis had evidence of glycosuria and ketonuria. Hyperuricemia, lactic acidemia, and hyperglycemia persisted despite insulin infusion, adequate hydration, and perfusion. Consequently, peritoneal dialysis was started. About 12 hours after dialysis, his metabolic derangements were normalized, and clinical status was improved dramatically. His metabolic disease workup was compatible with FDPase deficiency. Here, we described a metabolic attack of FDPase deficiency presented with hyperglycemia mimicking diabetic ketoacidosis.
 ...
PMID:Gluconeogenesis defect presenting with resistant hyperglycemia and acidosis mimicking diabetic ketoacidosis. 2215 80

Diaphragmatic hernias can be a pitfall for paediatric diagnostics, especially in the cases of late presentation, which can also have medico-legal ramifications as exposed. A three-year-old boy was taken to a children's hospital after an episode of abdominal pain and vomiting of food. A physical examination proved normal, with mild ketonuria being found and he was discharged. Three months later for the same signs and symptoms, he was taken once more to hospital, where he arrived in a state of cardiac arrest and died. A lawsuit was begun against the doctors who had examined him three months earlier. The autopsy found herniation of the abdominal organs into the left pleural cavity through a defect in the left hemidiaphragm. The cause of death was identified as cardiac tamponade caused by mechanical compression of multiple herniated abdominal organs. The histopathological examination revealed marked atelectasis of the left lung, with non-expansion of 60-90% of the alveoli which suggested an acute mechanism that proved fatal, and the doctors were acquitted. The features of this disease and the possible difficulties in its diagnosis highlight the need for the utmost attention in differential diagnosis, even at an age where the discovery of a diaphragmatic hernia is exceedingly rare.
 ...
PMID:Lethal Bochdalek hernia in a three-year-old: pathological findings and medicolegal investigation in accusation of malpractice. 2294 18

A healthy 18-year-old girl presented to a local emergency room with 48 h of abdominal pain and vomiting. A radiological and biochemical diagnosis of moderate acute pancreatitis was made. Bloodwork demonstrated prominent hypertriglyceridaemia (HTG) of 19.5 mmol/L (severe HTG: 11.2-22.4), detectable urine ketones and a random blood glucose of 13 mmol/L dropping to 10.5 mmol/L on repeat (normal random <11). Ketone levels were deemed consistent with fasting ketosis after 48 h of vomiting. There was no known history of diabetes in the patient. Management included aggressive rehydration and pain control, yet the patient rapidly decompensated into shock requiring intensive care unit support. Blood gases revealed severe metabolic acidosis (pH 6.99) and unsuspected underlying diabetic ketoacidosis was diagnosed. The HTG gradually resolved following intravenous fluids and insulin infusion with slower correction of the metabolic acidosis. Importantly, her glycated haemoglobin was 12%, indicating the silent presence of chronic glucose elevations.
...
PMID:Acute pancreatitis and severe hypertriglyceridaemia masking unsuspected underlying diabetic ketoacidosis. 2400 72


<< Previous 1 2 3 4 5 Next >>