Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0042963 (vomiting)
 31,883 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The detection of neurodegenerative and neurometabolic diseases in children relies on a high index of suspicion as most will present as common paediatric problems such as recurrent vomiting, feeding problem, failure to thrive, sepsis, or developmental delay. Alternatively, children may present with an acute encephalopathy or with a chronic progressive encephalopathy. Clinical clues suggestive of neurometabolic disorders include encephalopathic features such as microcephaly, macrocephaly, developmental regression, developmental arrest, change in sensorium, seizures, hypotonia, hypertonia, abnormal eye signs; also extrapyramidal or cerebellar signs and systemic features like abnormal respiration, hepatosplenomegaly, abnormal hair, liver dysfunction, renal tubular dysfunction, cardiomyopathy, and feeding difficulties or growth problems. Initial screening include tests for acidosis, ketosis, hyperlacticemia, and hyperammonemia. Further investigations should amino acid chromatography, assays of organic acids, specific enzyme assay of white cell or fibroblast culture, and histopatholgy of cell and tissue biopsy (white blood cell, skin, muscle, conjunctiva, bone marrow, liver, rectum, or brain). The correct diagnosis holds implications for targeted therapeutic intervention, genetic counselling, and possibly, prenatal diagnosis.
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PMID:Neurodegenerative diseases in children. 1184 61

Malonyl-CoA decarboxylase (E.C.4.1.1.9) catalyzes the conversion of malonyl-CoA to acetyl-CoA. Although the metabolic role of this enzyme has not been fully defined, it has been reported that its deficiency is associated with mild mental retardation, seizures, hypotonia, cadiomyopathy, developmental delay, vomiting, hypoglycemia, metabolic acidosis, and malonic aciduria. Here, we isolated a cDNA clone for malonyl CoA decarboxylase from a rat brain cDNA library, expressed it in E. coli, and characterized its biochemical properties. The full-length cDNA contained a single open-reading frame that encoded 491 amino acid residues with a calculated molecular weight of 54, 762 Da. Its deduced amino acid sequence revealed a 65.6% identity to that from the goose uropigial gland. The sequence of the first 38 amino acids represents a putative mitochondrial targeting sequence, and the last 3 amino acid sequences (SKL) represent peroxisomal targeting ones. The expression of malonyl CoA decarboxylase was observed over a wide range of tissues as a single transcript of 2.0 kb in size. The recombinant protein that was expressed in E. coli was used to characterize the biochemical properties, which showed a typical Michaelis-Menten substrate saturation pattern. The Km and Vmax were calculated to be 68 microM and 42.6 micromol/min/mg, respectively.
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PMID:Rat malonyl-CoA decarboxylase; cloning, expression in E. coli and its biochemical characterization. 1229 32

Valproic acid is a widely used drug in the treatment of epilepsy and, compared to other anticonvulsant drugs, is considered safe. The most common side effects of valproic acid ingestion or therapy are transient nausea, vomiting, abdominal cramps, and diarrhea. Most of these complaints are mild. However, more serious adverse reactions can occur such as hepatotoxicity and pancreatitis. It has been proposed that, whenever possible, valproic acid not be used in the younger child, the child with a severe seizure disorder or other neurological disorders, mental retardation, developmental delay, organic brain disease, congenital abnormalities, or the child who is taking multiple anticonvulsant drugs, as these factors may increase the likelihood of hepatotoxicity and/or pancreatitis. In the present report, we describe a fatal case of acute hemorrhagic pancreatitis in a four and a half-year-old Hispanic female child who was receiving valproic acid in combination with another anticonvulsant drug for control of focal seizures. The patient also received the macrolide antibiotic azithromycin. For pediatricians and forensic pathologists valproic acid-induced pancreatitis can be a challenging diagnosis which must not be mistaken for abdominal trauma. We discuss the workup of the patient and differential diagnosis.
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PMID:Pathological case of the month: sudden death in a child as a result of pancreatitis during valproic acid therapy. 1239 3

This study presents clinical and laboratory findings and outcome of infants with intracranial hemorrhage (ICH) due to vitamin K deficiency after the newborn period, and evaluates vitamin K prophylaxis. The hospital records of 19 infants with a diagnosis of ICH due to vitamin K deficiency after the newborn period, seen in our clinic in less than 4 years, were retrospectively evaluated. The mean age at onset of the symptoms was 49 +/- 18 days. The most frequent presenting complaints were convulsion (58%), vomiting (47%), and irritability (47%). The most frequent examination findings were coma (74%), fontanel bulging (68%), and absence of pupil reaction (42%). The localizations of the ICHs were as follows: parenchymal (47%), subarachnoid (47%), subdural (42%), and intraventricular (26%). Four patients had used antibiotics and 1 patient had suffered diarrhea before the onset of the symptoms. One patient had a mild hepatic dysfunction that resolved spontaneously in a few weeks and its cause was not found. Mortality was observed in 6 (32%) patients. Ten patients were followed up for a mean period of 26.9 +/- 22.6 months. The follow-up findings were developmental delay (40%), microcephaly (30%), epilepsy (30%), blindness (20%), strabismus (20%), spastic tetraparesis (10%), spastic hemiparesis (10%), growth retardation (10%), and hydrocephaly (10%). Three (30%) patients remained neurologically normal. Vitamin K deficiency leads to death and neurological defects. Vitamin K prophylaxis at birth is therefore a priority. In this series, hepatic dysfunction had been detected in only 1 patient. The authors speculate that additional vitamin K to breast-fed infants with liver problem, antibiotic use, diarrhea, etc., should be considered.
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PMID:Intracranial hemorrhage due to vitamin K deficiency after the newborn period. 1562 14

Eating disorders are significant causes of morbidity and mortality in adolescent females and young women. They are associated with severe medical and psychological consequences, including death, osteoporosis, growth delay and developmental delay. Dermatologic symptoms are almost always detectable in patients with severe anorexia nervosa (AN) and bulimia nervosa (BN), and awareness of these may help in the early diagnosis of hidden AN or BN. Cutaneous manifestations are the expression of the medical consequences of starvation, vomiting, abuse of drugs (such as laxatives and diuretics), and of psychiatric morbidity. These manifestations include xerosis, lanugo-like body hair, telogen effluvium, carotenoderma, acne, hyperpigmentation, seborrheic dermatitis, acrocyanosis, perniosis, petechiae, livedo reticularis, interdigital intertrigo, paronychia, generalized pruritus, acquired striae distensae, slower wound healing, prurigo pigmentosa, edema, linear erythema craquele, acral coldness, pellagra, scurvy, and acrodermatitis enteropathica. The most characteristic cutaneous sign of vomiting is Russell's sign (knuckle calluses). Symptoms arising from laxative or diuretic abuse include adverse reactions to drugs. Symptoms arising from psychiatric morbidity (artefacta) include the consequences of self-induced trauma. The role of the dermatologist in the management of eating disorders is to make an early diagnosis of the 'hidden' signs of these disorders in patients who tend to minimize or deny their disorder, and to avoid over-treatment of conditions which are overemphasized by patients' distorted perception of skin appearance. Even though skin signs of eating disorders improve with weight gain, the dermatologist will be asked to treat the dermatological conditions mentioned above. Xerosis improves with moisturizing ointments and humidification of the environment. Acne may be treated with topical benzoyl peroxide, antibacterials or azaleic acid; these agents may be administered as monotherapy or in combinations. Combination antibacterials, such as erythromycin with zinc, are also recommended because of the possibility of zinc deficiency in patients with eating disorders. The antiandrogen cyproterone acetate combined with 35 microg ethinyl estradiol may improve acne in women with AN and should be given for 2-4 months. Cheilitis, angular stomatitis, and nail fragility appear to respond to topical tocopherol (vitamin E). Russell's sign may decrease in size following applications of ointments that contain urea. Regular dental treatment is required to avoid tooth loss.
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PMID:Dermatologic signs in patients with eating disorders. 1594 93

Short-chain acyl-CoA dehydrogenase (SCAD) is a mitochondrial enzyme that catalyzes the dehydrogenation of short chain fatty acids (4 to 6 carbons in length) thereby initiating the cycle of beta-oxidation. This process generates acetyl-CoA, the key substrate for hepatic ketogenesis or ATP production by the Kreb's cycle. A deficiency of SCAD results in the build-up of potentially cytotoxic metabolites including ethylmalonic acid, methylsuccinyl CoA and butyryl-carnitine. The end-organ involvement is heterogeneous, but most commonly includes hypotonia with possible lipid myopathy and developmental delay. Other reported complications include dysmorphic craniofacial features, hypoglycemia, seizures, scoliosis, hypertonia and hyperreflexia, cyclic vomiting and myocardial dysfunction. We present a 23-month-old girl with SCAD deficiency, who required posterior fossa decompression for type 1 Chiari malformation. The potential perioperative implications of SCAD deficiency are reviewed.
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PMID:Perioperative management of a child with short-chain acyl-CoA dehydrogenase deficiency. 1610 9

X-linked alpha thalassemia mental retardation (ATR-X) syndrome is associated with profound developmental delay, facial dysmorphism, genital abnormalities, and alpha thalassemia. Patients with ATR-X syndrome frequently present with gastrointestinal problems, in particular feeding difficulties, regurgitation and vomiting, abdominal pain, distension, and chronic constipation. Parental reports of prolonged food refusal and distress in these children are common and although these episodes are suspected to be gastro-intestinal in origin they are rarely investigated. Death in early childhood from aspiration of vomitus or from pneumonia presumed to be secondary to aspiration has been recorded in a number of ATR-X cases. In this report we review the gastrointestinal phenotype of ATR-X syndrome in 128 cases. We also demonstrate that in two siblings, regurgitation was secondary to gastric pseudo-volvulus, a condition in which the stomach does not have a normal system of peritoneal ligaments and changes position with possible torsion around itself. Furthermore, ultra-short Hirschsprung disease with colonic hypoganglionosis was shown and this may contribute to the severe constipation affecting these children.
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PMID:Gastrointestinal phenotype of ATR-X syndrome. 1668 41

A female, 2 years and 7 months of age, was admitted to the hospital with stupor and nystagmus following projectile vomiting. She had been prenatally diagnosed with trisomy 12p with a familial pericentric inversion of chromosome 12 originating from her mother. She manifested developmental delay and some dysmorphic features of the face and limbs compatible with the clinical features of trisomy 12p. Four-vessel cerebral angiography revealed severe stenosis and occlusion of the supraclinoid portion of the right and left internal carotid arteries with numerous collateral vessels in the vicinity of the occlusion. These features are consistent with moyamoya syndrome. This report presents the first case of moyamoya syndrome with trisomy 12p with a familial pericentric inversion of chromosome 12.
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PMID:Moyamoya syndrome in a child with trisomy 12p syndrome. 1713 18

The newborn's vitamin B12 storage exclusively comes from placenta transfer, later from animal food. We relate 3 observations of infants (3-11-13 months) with failure to thrive, anorexia, vomiting and for the two olders refusal of weaning, associated with psychomotricity regression and hypotony. Blood cell count showed a macrocytosis without anemia (case 2-3) and a severe microcytic anemia for the first case caused by a mild alpha-thalassemia, with megaloblastic bone marrow. Vitamin B12 levels were very low associated with increased methylmalonic acid and homocysteine serum levels which confirm the diagnostic . Cerebral imaging showed diffuse cortical atrophy. Cobalamin deficiency was caused by strict vegetarian diets mothers of breastfed infants (cases 2-3) and for younger by mother's unrecognized pernicious anemia. 3 mothers had no anemia and normal B12 's levels at diagnosis. Vitamin B12 supply lead to a rapid clinical and hematologic improvement. In two cases, neurologic recovery was incomplete. About one hundred case of B12 deficiency 's infant are reported, 2/3 are breast-fed by vegetarian mothers, and 1/4 have mothers with pernicious anemia. The failure to thrive is due to anorexia, refusal of weaning and partial villous atrophy. Neurologic manifestations are secondary to cerebral disorders, sometimes revealed by an exposure to anesthetic nitrous oxyd. The macrocytic anemia is inconstant. The etiologic research of developmental delay in an infant may include vitamin B12's deficiency, even if there is no haematologic signs, especially if breast-fedding 's mothers is vegetarian.
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PMID:[Failure to thrive and psychomotor regression revealing vitamin B12 deficiency in 3 infants]. 1741 72

Gastrointestinal causes of sudden and/or unexpected death in the young are uncommon and only rarely involve congenital anomalies of the mesentery. Two cases are reported of unexpected deaths following herniation of intestine through congenital mesenteric defects to illustrate the forensic issues that may arise. Case 1 involves a 2.5-year-old girl who collapsed on arrival to hospital following 18 hours of fever and apparently mildly nonspecific symptoms. Resuscitation was unsuccessful, and at autopsy a segment of gangrenous small intestine was found that had herniated through a congenital mesenteric defect. Case 2 involves a 23-year-old woman with a past history of severe mental and physical disabilities who was found dead in her bed. She had a recent history of mild diarrhea and vomiting, but had not appeared particularly ill. At autopsy the peritoneal cavity was filled with a very dilated and obstructed colon as a result of herniation of a segment of sigmoid colon through a distal small intestinal mesenteric defect. These cases demonstrate that symptoms and signs of intestinal ischemia may not be clearly manifested in early childhood and that developmental delay may also result in older individuals presenting in a nonspecific manner. Although rare, congenital mesenteric abnormalities with compromise of the intestinal vasculature remain a possibility to be considered at autopsy in all cases of unexpected death, despite the lack of a clear history of significant gastrointestinal disturbance. Death may relate to ischemic compromise of either the herniated portion of intestine (as in case 1) or to the stretched intestine bordering the hernial orifice (as in case 2).
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PMID:Congenital mesenteric defects and unexpected death-a rare finding at autopsy. 1820 27


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