Symptoma

Succinic Acidemia

Congenital Succinic Acidemia with Lactic Acidosis

The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider. [wellnessadvocate.com]

This text brings together leading authorities presenting state-of-the-art clinical reviews covering the science, recognition, and treatment of the inherited metabolic epilepsies and related disorders. [books.google.com]

The second group presented with relatively non-specific failure to thrive and/or developmental delay (chronic intermittent presentation). [e-imd.org]

  • Death in Infancy

    Symptoms - Succinic acidemia * High blood succinic acid level * Lactic acidosis * Respiratory distress * Death during infancy * Stillbirth * Reduced muscle tone * Vomiting * Deep rapid breathing Causes - Succinic acidemia Not supplied. [checkorphan.org]

  • Respiratory Distress

    Succinic acidemia, lactic acidosis and respiratory distress were observed in one of the siblings, who died 37 days after birth, and succinic acidemia was also detected in the next sibling at the fetal stage. [ncbi.nlm.nih.gov]

    Symptoms - Succinic acidemia * High blood succinic acid level * Lactic acidosis * Respiratory distress * Death during infancy * Stillbirth * Reduced muscle tone * Vomiting * Deep rapid breathing Causes - Succinic acidemia Not supplied. [checkorphan.org]

    Physical examination revealed an obese man in moderate respiratory distress. The temperature was 36.8 C, BP was 119/83 mmHg, and heart rate was 96 per minute. [cjasn.asnjournals.org]

  • Tachypnea

    Abnormally rapid breathing (tachypnea) may be detected and sometimes is the first sign recognized of elevated ammonia in the blood. [rarediseases.org]

    Apart from tachypnea, he had normal vital signs and evidence of moderate fluid overload with vascular congestion. [cjasn.asnjournals.org]

  • Cough

    You’ll find clear guidance on exactly what to consider and how to proceed when faced with a host of common symptoms such as cough, fever, headache, chest pain, gait disturbances, and many more. [books.google.com]

  • Chest Pain

    You’ll find clear guidance on exactly what to consider and how to proceed when faced with a host of common symptoms such as cough, fever, headache, chest pain, gait disturbances, and many more. [books.google.com]

  • Behavior Disorder

    Covers new approaches to diagnostic imaging and genetic testing, new diagnostic guidelines, BRUE (brief resolved unexplained event), stroke in children, behavior disorders, syncope, recurrent fever syndromes, and much more. [books.google.com]

  • Aggressive Behavior

    The treatment options of Succinic Semialdehyde Dehydrogenase Deficiency are mainly aimed at managing the symptoms and these include: For seizures, antiepileptic drugs, such as lamotrigine, carbamazepine, and vigabatrin, may be prescribed For anxiety, aggressive [dovemed.com]

  • Polyps

    Review the latest developments in the field and get up-to-date clinical information on hot topics like polyps, capsule endoscopy, and pancreatic treatments. [books.google.com]

The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider. [wellnessadvocate.com]

Review the latest developments in the field and get up-to-date clinical information on hot topics like polyps, capsule endoscopy, and pancreatic treatments. [books.google.com]

Treatment - Succinic acidemia Not supplied. Resources - Succinic acidemia Not supplied. [checkorphan.org]

Arterial Pressure: Therapeutic Goals and Pharmacologic Support,Mechanisms; Detection and Potential Management of Microcirculatory Disturbances; Detection of Hypoxia at the Cellular Level; Type A & B Lactic Acidosis: Recognition, Kinetics, and Associated Prognosis [books.google.de]

Prognosis - Succinic acidemia Not supplied. Treatment - Succinic acidemia Not supplied. Resources - Succinic acidemia Not supplied. [checkorphan.org]

Prognosis Prognosis is guarded. Although intellectual impairment is the rule, even among patients who receive excellent and timely treatment, some patients with ASA lyase deficiency reportedly develop normally. [emedicine.medscape.com]

(Etiology) Succinic Semialdehyde Dehydrogenase Deficiency is a genetic disorder that is inherited in an autosomal recessive manner. [dovemed.com]

Etiology and Pathophysiology IVA is inherited as an autosomal recessive trait. The gene encoding isovaleryl-CoA dehydrogenase has been cloned and localized to chromosome 15 (15q14-15), and multiple disease-causing mutations have been identified. [e-imd.org]

Severe Respiratory Acidosis in Status Epilepticus as a Possible Etiology of Sudden Death in Lesch-Nyhan Disease: A Case Report and Review of the Literature. JIMD Rep. 2017; 35:23-28. PMID: 27858372. View in: PubMed Nyhan WL, Gangoiti JA. [profiles.ucsd.edu]

Refractory seizures with suspected metabolic etiology Seizures despite 2 or 3 antiepileptic drugs Pyridoxine 100 mg intravenously. oral 15 mg/kg/day. [slideshare.net]

Disease name OMIM number Isovaleric acidemia (IVA) MIM 243500 Synonyms (if available) Isovaleryl-CoA Dehydrogenase (IVD) Deficiency Epidemiology The incidence of IVA has a range from 1/62,500 live births in parts of Germany to 1/250,000 in the United [e-imd.org]

Epidemiology Frequency United States ASA lyase deficiency is rare,, affecting an estimated 1 in 70,000 live births. [emedicine.medscape.com]

Etiology and Pathophysiology IVA is inherited as an autosomal recessive trait. The gene encoding isovaleryl-CoA dehydrogenase has been cloned and localized to chromosome 15 (15q14-15), and multiple disease-causing mutations have been identified. [e-imd.org]

Pathophysiology The hepatic urea cycle is the major route for waste nitrogen disposal; nitrogen generation results chiefly from protein and amino acid metabolism. [emedicine.medscape.com]

The pathophysiology of brain lesions in patients with methylmalonic acidemia is attributed to inhibition of succinate dehydrogenase, an enzyme essential for mitochondrial aerobic glucose oxidation, by high levels of methylmalonic acid (5). [ajnr.org]

Clin Chem. 1994 Jun;40(6):862-6. [ PubMed:8087979 ] Hoffmann GF, Meier-Augenstein W, Stockler S, Surtees R, Rating D, Nyhan WL: Physiology and pathophysiology of organic acids in cerebrospinal fluid. [hmdb.ca]

Prevention - Succinic acidemia Not supplied. Diagnosis - Succinic acidemia signs and symptoms of Succinic acidemia may vary on an individual basis for each patient. [checkorphan.org]

And are not intended to diagnose, treat, cure or prevent disease. The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider. [wellnessadvocate.com]

The first is prevention of metabolic decompensation by careful clinical observation of the patient. [e-imd.org]

[…] phenotype do not develop in all patients, and there is evidence that early supplementation with L-carnitine, vigorous treatment of intercurrent infections with fluids, glucose and insulin, and (perhaps) dietary restriction of lysine and tryptophan can prevent [ommbid.mhmedical.com]