propionic acidemia/vomiting

Lyen an sove nan clipboard la

AtikEsè klinikPatant

Chwazi kalite sòt

Paj 1 soti nan 38 rezilta yo

Propionic acidemia and anorectal anomalies in three siblings.

Se sèlman itilizatè ki anrejistre yo ki ka tradwi atik yo

Three siblings suffering from recurrent vomiting, hypotonia, hyperpnea, dehydration, and ketoacidosis were diagnosed as having ketotic hyperglycinemia secondary to propionic acidemia. They also had leukopenia and thrombocytopenia, and two of them had anorectal malformations, one an imperforate anus

Emergency presentations of patients with methylmalonic acidemia, propionic acidemia and branched chain amino acidemia (MSUD).

Se sèlman itilizatè ki anrejistre yo ki ka tradwi atik yo

The charts of 16 patients with branched chain amino acidemia (MSUD) who had 48 emergency room (ER) visits, of 10 patients with propionic acidemia (PA) who had 57 ER visit, and of 13 patients with methylmalonic acidemia (MMA) who had 154 ER visits, were reviewed retrospectively for the most common

Propionic acidemia: a neuropathology case report and review of prior cases.

Se sèlman itilizatè ki anrejistre yo ki ka tradwi atik yo

Propionic acidemia is a disorder of branch-chain amino acid and odd-chain fatty acid metabolism. The clinical features typically begin shortly after birth, with rare cases presenting in young adulthood. This disorder most commonly is characterized by episodic decompensations with dehydration,

[Infant boy with propionic acidemia: anesthetic implications].

Se sèlman itilizatè ki anrejistre yo ki ka tradwi atik yo

A 12-month-old boy diagnosed with propionic acidemia underwent gastrostomy. The patient's general state was good and he was alert, but with reduced muscular tone (unstable when seated with support, floppy head) and with dystonic movements in all extremities. An electroencephalogram showed slightly

Propionic acidemia: case report and review of neurologic sequelae.

Se sèlman itilizatè ki anrejistre yo ki ka tradwi atik yo

We describe late-onset propionic acidemia in a 12-year-old boy who presented with vomiting, cough, and fever, and manifested a precipitous decline in mental status, accompanied by acute encephalopathy and severe neurologic damage, with bilateral basal ganglia involvement upon neuroimaging. He

[Propionic acidemia: one case report].

Se sèlman itilizatè ki anrejistre yo ki ka tradwi atik yo

A case of propionic acidemia is reported. The main features of this patient were recurrent vomiting, ketosis and occasional episodes of seizure. Serum concentrations of propionic acid and glycine were within the normal range. Blood ammonia was slightly elevated. Characteristic organic acids were

Reversible diffusion weighted imaging changes in propionic acidemia.

Se sèlman itilizatè ki anrejistre yo ki ka tradwi atik yo

Propionic acidemia is an inborn error of metabolism with neurologic manifestations. We describe a 3-year-old boy with propionic acidemia presenting with a metabolic crisis including headache, vomiting, and altered mental status with metabolic acidosis. Electroencephalography showed focal slowing in

Excretion of 2-methyl-3-oxovaleric acid in propionic acidemia.

Se sèlman itilizatè ki anrejistre yo ki ka tradwi atik yo

A new case of propionic acidemia is presented, paying special attention to the early symptoms of this disease, such as increased drowsiness, muscular hypotonia, poor feeding, hypothermia, metabolic acidosis, ketonuria and vomiting. Investigation by gas chromatography (GC) and gas chromatography-mass

[Propionic acidemia associated with hypertrophic pyloric stenosis and bouts of severe hyperglycemia (author's transl)].

Se sèlman itilizatè ki anrejistre yo ki ka tradwi atik yo

A newborn is presented with hyperexcitability, drowsiness and later-on with frequent vomiting and muscular hypotonia. Examination of the urine by gas chromatography-mass spectrometry lead to the diagnosis of propionic acidemia which was confirmed enzymatically in fibroblasts. Two unusual features

Primary treatment of propionic acidemia complicated by acute thiamine deficiency.

Se sèlman itilizatè ki anrejistre yo ki ka tradwi atik yo

Propionic acidemia is often manifested during the neonatal period with vomiting, failure to thrive, lethargy, and hyperammonemic coma when catabolism is prolonged. Mild lactic acidosis frequently accompanies metabolic decompensation. We present two patients with propionic acidemia whose initial

Propionic Acidemia with Novel Mutation Presenting as Recurrent Pancreatitis in a Child.

Se sèlman itilizatè ki anrejistre yo ki ka tradwi atik yo

Propionic acidemia (PA) is a rare organic acidemia resulting from a deficiency of the mitochondrial enzyme propionyl-coenzyme A carboxylase. Most cases are diagnosed after the detection of metabolic abnormalities-such as hyperammonemia, metabolic acidosis, and ketosis-associated with complaints of

Array comparative genomic hybridization (aCGH) reveals the largest novel deletion in PCCA found in a Saudi family with propionic acidemia.

Se sèlman itilizatè ki anrejistre yo ki ka tradwi atik yo

Propionic acidemia is a metabolic disorder (OMIM 606054) caused by deficiency of the propionyl-coenzyme A (CoA) carboxylase, which subsequently results in accumulation of propionic acid. Patients may initially present with poor feeding, vomiting, loss of appetite, hypotonia, and lethargy. Later,

Unusual presentations of propionic acidemia.

Se sèlman itilizatè ki anrejistre yo ki ka tradwi atik yo

The files of 25 patients with propionic acidemia (PA), followed by the Inborn Errors of Metabolism Service (IEMS) at King Faisal Specialist Hospital and Research Centre (KFSH & RC) from 1990 to 1993, were studied retrospectively. In 14 patients PA presented acutely with acidosis, hyperammonemia and

Subacute presentation of propionic acidemia.

Se sèlman itilizatè ki anrejistre yo ki ka tradwi atik yo

Propionic acidemia is a hereditary metabolic disease caused by a deficiency of enzyme propionyl-CoA carboxylase, which is involved in the catabolism of ramified amino acids, odd-chain fatty acids, and other metabolites; the deficiency of this enzyme leads to an accumulation of toxic substances in

[Propionicacidemia. A report on two cases (author's transl)].

Se sèlman itilizatè ki anrejistre yo ki ka tradwi atik yo

Two cases of propionicacidemia are reported. The first patient was a child aged 16 months with psychomotor retardation, severe disturbances of wakefulness, and vomiting; the second case concerned a new-born baby with metabolic acidosis and neurological disorders. In both cases the diagnosis of

Antre nan paj
facebook nou an

Herbal & Natural Medicine

Baz done ki pi konplè remèd fèy medsin te apiye nan syans

Travay nan 55 lang
Geri èrbal te apiye nan syans
Remèd fèy rekonesans pa imaj
Kat entèaktif GPS - tag zèb sou kote (vini byento)
Li piblikasyon syantifik ki gen rapò ak rechèch ou an
Search remèd fèy medsin pa efè yo
Izeganize enterè ou yo ak rete kanpe fè dat ak rechèch la nouvèl, esè klinik ak rive

Tape yon sentòm oswa yon maladi epi li sou remèd fèy ki ta ka ede, tape yon zèb ak wè maladi ak sentòm li itilize kont.
* Tout enfòmasyon baze sou rechèch syantifik pibliye