1/47. Treatment of pyruvate carboxylase deficiency with high doses of citrate and aspartate.A patient with severe pyruvate carboxylase deficiency presented at age 11 weeks with metabolic decompensation after routine immunization. She was comatose, had severe lactic acidemia (22 mM) and ketosis, low aspartate and glutamate, elevated citrulline and proline, and mild hyperammonemia. head magnetic resonance imaging showed subdural hematomas and mild generalized brain atrophy. biotin-unresponsive pyruvate carboxylase deficiency was diagnosed. To provide oxaloacetate, she was treated with high-dose citrate (7.5 mol/kg(-1)/day(-1)), aspartate (10 mmol/kg(-1)/day(-1)), and continuous drip feeding. Lactate and ketones diminished dramatically, and plasma amino acids normalized, except for arginine, which required supplementation. In the cerebrospinal fluid (CSF), glutamine remained low and lysine elevated, showing the treatment had not normalized brain chemistry. Metabolic decompensations, triggered by infections or fasting, diminished after the first year. They were characterized by severe lactic and ketoacidosis, hypernatremia, and a tendency to hypoglycemia. At age 3(1/2) years she has profound mental retardation, spasticity, and grand mal and myoclonic seizures only partially controlled by anticonvulsants. The new treatment regimen has helped maintain metabolic control, but the neurological outcome is still poor.- - - - - - - - - - ranking = 1keywords = ketoacidosis, ketosis (Clic here for more details about this article) |
2/47. kearns-sayre syndrome presenting as 2-oxoadipic aciduria.A patient with 2-oxoadipic aciduria and 2-aminoadipic aciduria presented at 2 years of age with manifestations typical of organic acidemia, episodes of ketosis and acidosis, progressive to coma. This resolved and the key metabolites disappeared from the urine and blood. At 9 years of age she developed typical kearns-sayre syndrome with complete heart block, retinopathy, and ophthalmoplegia. Southern blot revealed a deletion in the mitochondrial genome.- - - - - - - - - - ranking = 0.079110398687274keywords = ketosis (Clic here for more details about this article) |
3/47. Hyperglycinemia and propionyl coA carboxylase deficiency and episodic severe illness without consistent ketosis.Propionyl CoA carboxylase deficiency was found in a 7-month-old boy who presented with attacks of vomiting, anorexia, weight loss, weakness, and hypotonia. He failed to thrive and had generalized seizures. He had propionic acidemia and hyperglycinemia; these are the manifestations of the ketotic hyperglycinemia syndrome. However, ketonuria was not a consistent part of his clinical picture, and he had at least two episodes of acute overwhelming illness, the latter one fatal, in which ketones were never found in the urine. Large amounts of pyrrolidone carboxylic acid were found in body fluids.- - - - - - - - - - ranking = 0.3164415947491keywords = ketosis (Clic here for more details about this article) |
4/47. diabetic ketoacidosis associated with recurrent pulmonary edema and rhabdomyolysis in a patient with Turner's syndrome.Turner's syndrome is a condition involving total or partial absence of one x chromosome and has been associated with a number of diseases including non insulin dependent diabetes mellitus, abnormalities of glucose metabolism and hypothreosis. There have been many case reports in which Turner's syndrome is associated with type 2 diabetes, but the association with type 1 diabetes and/or life threatening complications is very rare. We present an unusual case of a patient with Turner's syndrome who has type 1 diabetes and is complicated with ketoacidosis, severe acute and recurrent pulmonary edema and rhabdomyolysis.- - - - - - - - - - ranking = 4.6044480065636keywords = ketoacidosis (Clic here for more details about this article) |
5/47. hypoglycemia and resistance to ketoacidosis in a subject without functional insulin receptors.humans with congenital absence of the islets of langerhans and mice rendered null for the insulin receptor rapidly develop severe hyperglycemia and ketoacidosis and, if untreated, die in the early neonatal period. In contrast, children with homozygous or compound heterozygous mutations of the insulin receptor gene, although hyperglycemic postprandially, survive for many months without developing ketoacidosis. Paradoxically, they often develop hypoglycemia. The rarity of the condition and the difficulties of undertaking metabolic studies in ill infants have limited the physiological information that might explain the clinical features. We studied a boy with Donohue's syndrome who represents a further example of the null phenotype, with two different and novel nonsense mutations in the alpha-subunit of the receptor. He survived for 8 months without developing ketoacidosis, and fasting hypoglycemia was a frequent problem. Despite the complete absence of insulin receptors, evidence for persistent insulin-like effects on fat and liver was seen; fasting plasma beta-hydroxybutyrate and nonesterified fatty acid levels were low, fell further during the early postprandial period, and failed to rise in response to hypoglycemia. The inverse relationships between plasma insulin and insulin-like growth factor-binding protein-1 levels were maintained, suggesting persistent hepatic effects of insulin. GH levels measured over a 6.5-h period were low throughout. Thus, the differences between congenital insulin deficiency vs. insulin receptor deficiency in humans may be explained by persistent insulinomimetic activity of the grossly elevated plasma insulin presumably being mediated through the type 1 insulin-like growth factor receptor. As GH plays a critical role in the regulation of ketogenesis during insulinopenia in humans, but not in rodents, this may contribute to the distinct phenotype of human vs. mouse insulin receptor knockouts.- - - - - - - - - - ranking = 6.4462272091891keywords = ketoacidosis (Clic here for more details about this article) |
6/47. Ketotic hyperglycemia and epilepsia partialis continua.epilepsia partialis continua (EPC) may occur during nonketotic hyperglycemia but has not been described with diabetic ketoacidosis. The authors report a patient with EPC associated with ketotic hyperglycemia. Brain MRI showed two areas of abnormal signal intensity in the left precentral gyrus and in the right cerebellar hemisphere. hyperglycemia may reduce seizure threshold because of the increase in gamma-aminobutyric acid metabolism and may trigger epileptic discharges.- - - - - - - - - - ranking = 0.92088960131273keywords = ketoacidosis (Clic here for more details about this article) |
7/47. Deranged isoleucine metabolism during ketotic attacks in patients with methylmalonic acidaemia.Two patients with methylmalonic acidaemia due to methylmalonyl-coa mutase deficiency were studied for several years. Both exhibited at least two attacks of severe ketoacidosis, during which they excreted, in addition to methylmalonic acid, a number of abnormal compounds: 3-hydroxypropionic acid, 2-methyl-3-hydroxybutyric, 3-hydroxy-n-valeric acid, 3-oxo-n-valeric acid, 2-methyl-3-oxobutyric acid, citraconic acid and N-tiglyglycine. These compounds represent partly intermediary metabolites from the isoleucine degradation pathway and partly secondary metabolites of propionyl-CoA and tiglyl-CoA.- - - - - - - - - - ranking = 0.92088960131273keywords = ketoacidosis (Clic here for more details about this article) |
8/47. Alcohol induced ketoacidosis, severe hypoglycemia and irreversible encephalopathy.BACKGROUND: Severe hypoglycemia leading to permanent brain damage is rare in non-diabetic population. We present one such case where chronic alcoholism combined with prolonged fasting lead to such a state and patient ended in a persistent vegetative state. CASE REPORT: A 50 year old Asian woman with past history of chronic alcoholism and hepatitis c was found unresponsive in her house after drinking alcohol consecutively for 2 days. Finger-stick glucose done by paramedics was <20 mg/dl. She was given 50 ml of 50% dextrose without any neurological response. On arrival in the emergency department patient was found to be comatose with only withdrawal response to deep painful stimuli and a negative babinski's sign. Computed tomogram of the head revealed mild cerebral atrophy. After an extensive work up a diagnosis of alcoholic ketoacidosis with hypoglycemia related encephalopathy was made. CONCLUSIONS: Alcohol induced ketoacidosis is usually associated with normal blood glucose. The probable etiology of low blood sugar in our patient was alcohol-induced inhibition of gluconeogenesis along with starvation. The prolonged hypoglycemia caused cortical damage simulating ischemic brain damage. Ten months in to follow-up patient is still in persistent vegetative state with no noticeable neurological recovery.- - - - - - - - - - ranking = 5.5253376078764keywords = ketoacidosis (Clic here for more details about this article) |
9/47. Major ketogenesis and the absence of an osmolar gap in an atypical case of alcoholic ketoacidosis.A new case of alcoholic ketoacidosis (AKA) is presented because of unusual clinical and biochemical features. Although it shares some similarities with typical cases of AKA, it appears as unique because of predominantly neurological, rather than abdominal symptoms, major ketogenesis with normal ketone body ratio, the presence of large amounts of propanediol and the absence of an osmolar gap.- - - - - - - - - - ranking = 4.6044480065636keywords = ketoacidosis (Clic here for more details about this article) |
10/47. Severe acidosis caused by starvation and stress.A 1-year-old boy had severe anoxic brain injury owing to a cardiorespiratory arrest. He had an initial metabolic acidosis, but this largely resolved by hospital day 2. He then had a persistent, profound metabolic acidosis. Evaluation on hospital day 6 found that the patient had ketonemia, ketonuria, and a normal serum glucose level; he had received no intravenous dextrose during his hospitalization. The dextrose-free fluids were given initially to protect his brain from the deleterious effects of hyperglycemia after brain injury. Continuation beyond 24 hours was inadvertent. The initiation of dextrose-containing intravenous fluids produced a rapid resolution of his metabolic acidosis. starvation usually produces a mild metabolic acidosis, but when combined with physiologic stress, starvation may cause a severe metabolic acidosis. Among the few reports of severe starvation ketoacidosis, our case is unique because the patient was monitored closely in an intensive care unit, allowing us to describe the time course of the acidosis in detail.- - - - - - - - - - ranking = 0.92088960131273keywords = ketoacidosis (Clic here for more details about this article) |
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