1/158. Hypoketotic hypoglycemic coma in a 21-month-old child.We present the case of a 21-month-old child with hypoketotic hypoglycemic coma. The differential diagnosis initially included metabolic causes versus a toxicologic emergency (unripe ackee fruit poisoning). Using information obtained from the emergency department, the diagnosis was confirmed as the late-onset form of glutaric acidemia type II. This case illustrates the importance of emergency physicians in the diagnosis and management of children with inborn errors of metabolism.- - - - - - - - - - ranking = 1keywords = ketotic (Clic here for more details about this article) |
2/158. Hyperinsulinemic hypoglycemia as a presenting sign in phosphomannose isomerase deficiency: A new manifestation of carbohydrate-deficient glycoprotein syndrome treatable with mannose.We report the case of a patient with carbohydrate-deficient glycoprotein syndrome type Ib who developed normally until 3 months of age, when she was referred to the hospital for evaluation of hypoglycemia that was found to be related to hyperinsulinism. She also had vomiting episodes, hepatomegaly, and intractable diarrhea, which evoked the diagnosis of carbohydrate-deficient glycoprotein syndrome. Oral mannose treatment at a dose of 0.17 g/kg body weight 6 times/d was followed by a clinical improvement and normalization of blood glucose, aminotransferases, and coagulation factor levels. Hyperinsulinemic hypoglycemia should be considered as a leading sign of carbohydrate-deficient glycoprotein syndrome type Ib, especially when it is associated with enteropathy and abnormal liver tests.- - - - - - - - - - ranking = 0.00049524039033145keywords = deficiency (Clic here for more details about this article) |
3/158. Identification of two novel mutations in the hypoglycemic phenotype of very long chain acyl-coa dehydrogenase deficiency.Very long chain acyl-coa dehydrogenase (VLCAD) catalyzes the initial step of long chain fatty acid oxidation in the mitochondria. patients with VLCAD deficiency have recently been observed with two clinical phenotypes. The cardiac form presents with an early onset cardiomyopathy and a high incidence of infant death, while the hypoglycemic form resembles medium chain acyl-coa dehydrogenase (MCAD) manifesting with hypoketotic hypoglycemia. In our investigation on the molecular basis for these phenotypes, we identified two novel mutations in one VLCAD patient with the hypoglycemic form, a C953T (Pro318Leu) mutation in exon 10 resulting in a substitution of proline 318 by leucine on one allele, and a C1194A (Tyr398Stop) mutation in exon 12 which created a premature stop codon TAA on another allele. The Tyr398Stop mutation may result in a truncated protein or instable messenger rna.- - - - - - - - - - ranking = 0.20061905048791keywords = ketotic, deficiency (Clic here for more details about this article) |
4/158. Riding out a diabetic emergency.Acute complications of diabetes are like a runaway roller coaster. Diabetes or its treatment can rocket your patient's blood glucose level to dizzying heights or plunge it to life-threatening lows. hypoglycemia, the most common endocrine emergency, typically occurs in a known diabetic patient whose therapy with insulin or oral diabetes agents goes awry. At the opposite extreme, soaring blood glucose levels mark the acute conditions diabetic ketoacidosis (DKA) and hyperosmolar hyperglycemic nonketotic state (HHNS). These complications may send the patient to the emergency department (ED) before he even knows he has diabetes. In this article, I'll explain how these problems develop and spell out nursing measures to get your patient back on track.- - - - - - - - - - ranking = 0.2keywords = ketotic (Clic here for more details about this article) |
5/158. Acute adrenal insufficiency during pregnancy and puerperium: case report and literature review.Acute adrenal dysfunction during pregnancy is rare. Nevertheless, adrenal insufficiency can present as an adrenal crisis, and may be life threatening. There is a wide range of clinical symptoms and signs, and the differential diagnosis is challenging. A full adrenal and pituitary evaluation, both structural and hormonal, must be performed to reach the correct diagnosis, and appropriate treatment must not be delayed. A case is presented of acute adrenal insufficiency that occurred 24 hours after a cesarean delivery. The initial symptoms included hypoglycemic seizures and coma. The workup, both hormonal and structural, revealed isolated adrenocorticotrophic hormone deficiency. This considers this case and reviews the differential diagnosis, diagnostic workup, and the treatment of adrenal dysfunction in pregnancy and the puerperium, as well as the obstetric outcome in women suffering from this disorder. TARGET AUDIENCE: Obstetricians & Gynecologists, family physicians. learning OBJECTIVES: After completion of this article, the reader will be able to understand the various presentations of hypopituitarism, the various etiologies of this condition, and the appropriate work up and management of a patient with hypopituitarism.- - - - - - - - - - ranking = 0.00012381009758286keywords = deficiency (Clic here for more details about this article) |
6/158. Severe hypoglycemia as a presenting symptom of carbohydrate-deficient glycoprotein syndrome.We describe clinical, biochemical, and molecular findings in a 2(1/2)-year-old girl with a phosphomannose isomerase deficiency who presented with severe and persistent hypoglycemia and subsequently developed protein-losing enteropathy, liver disease, and coagulopathy. Six months of therapy with mannose supplementation resulted in clinical improvement and partial correction of biochemical abnormalities.- - - - - - - - - - ranking = 0.00012381009758286keywords = deficiency (Clic here for more details about this article) |
7/158. Hypoglycinaemia and psychomotor delay in a child with xeroderma pigmentosum.glycine is a nonessential amino acid that serves as both an inhibitory and an excitatory neurotransmitter. Hyperglycinaemia occurs in non-ketotic hyperglycinaemia, a primary defect in the glycine cleavage pathway, and as a secondary feature of several inborn errors of organic acid metabolism. However, specifically low levels of glycine have never been reported. Here we report a child with complementation group C xeroderma pigmentosum (XP) characterized by a splice donor mutation in the XPC gene, multiple skin cancers and specific and persistent hypoglycinaemia. He has cognitive delay, lack of speech, autistic features, hyperactivity and hypotonia, all unexplained by the diagnosis of XP group C, a non-neurological form of the disease. Treatment with oral glycine has improved his hyperactivity. Specific hypoglycinaemia could indicate a metabolic disorder producing neurological dysfunction. Whether it is related to or coincidental with the XP is unclear.- - - - - - - - - - ranking = 0.2keywords = ketotic (Clic here for more details about this article) |
8/158. delayed diagnosis of fatal medium-chain acyl-coa dehydrogenase deficiency in a child.A 5-year-old white female presented with coma and died unexpectedly. She had a history of recurrent episodes of febrile illnesses associated with lethargy and coma. Postmortem investigation revealed a fatty liver, leading to a suspicion of inborn error of fatty acid oxidation. The diagnosis of medium-chain acyl-coa dehydrogenase (MCAD) deficiency was suggested by abnormal acylcarnitine profile with increased octanoylcarnitine in the blood, and confirmed by fatty acid oxidation studies and mutation analysis in skin fibroblast cultures. This case emphasizes the need to consider fatty acid oxidation disorders in all children who present with hypoglycemia with absent or mild ketones in the urine and high anion gap metabolic acidosis.- - - - - - - - - - ranking = 0.00061905048791431keywords = deficiency (Clic here for more details about this article) |
9/158. Adrenal crisis presenting as hypoglycemic coma.An 18-month-old male infant presented with hypoglycemic coma and clinical signs of bronchopneumonia. He was suspected of suffering from septic shock. The patient progressed to irreversible multiple organ failure before the diagnosis of adrenal crisis was established. plasma levels of ACTH and cortisol remained undetectable. renin and aldosterone were normal. An autopsy failed to demonstrate any adrenal gland cortical tissue. Immunohistochemical staining demonstrated the presence of all pituitary hormones except ACTH, establishing the diagnosis of isolated ACTH deficiency. intensive care clinicians should consider adrenal crisis in non-diabetic children with hypoglycemia and rapid circulatory deterioration.- - - - - - - - - - ranking = 0.00012381009758286keywords = deficiency (Clic here for more details about this article) |
10/158. Isolated corticotropin deficiency in chronic alcoholism.Three patients who chronically abused alcohol were found to be hyponatraemic with normal plasma potassium. The first had been admitted with confusion and weight loss, the second with hypotension and sepsis, and the third with confusion and hypoglycaemia-induced seizures. All three patients had a subnormal cortisol response in the short synacthen test; however, the plasma cortisol after three days of tetracosactrin administration was greater than 550 nmol/L. Baseline corticotropin levels were less than 10 pg/mL in all three. No structural lesions of the hypothalamo-pituitary tract were found and there was no evidence of other endocrinopathies. Glucocorticoid replacement therapy led to the resolution of hyponatraemia and hypoglycaemia, where present, and to clinical improvement. The two surviving patients remained hypocortisolaemic in the long term, without recurrence of hyponatraemia or hypoglycaemia. The features of isolated corticotropin deficiency are easily confused with other effects of chronic alcohol abuse. In alcoholic patients with unexplained hyponatraemia, hypoglycaemia or haemodynamic instability, a short tetracosactrin test is advisable.- - - - - - - - - - ranking = 0.00061905048791431keywords = deficiency (Clic here for more details about this article) |
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