The authors present an 8-month-old girl with a suspicion of neuroinfection, although the clinical presentation led to diagnosis of ethylmalonic aciduria. [ncbi.nlm.nih.gov]

Clinical Three clinical presentations are reported for MADD. Two newborn presentations are seen – one with congenital anomalies, and one without. [genico.ch]

• Disability

  We investigated fibroblast cultures from 10 patients with neuromuscular disabilities, elevated levels of ethylmalonic acid (EMA) ( 50 mmol/mol creatinine), and ACADS c.625G A homozygosity. [ncbi.nlm.nih.gov]

  '-deoxyinosine, and 2'-deodyguanosine; Clinical features : Growth failure, cellular immunodeficiency, recurrent infections, hepatosplenomegaly, cerebral vasculitis, spastic diplegia, tetraparesis, ataxia, tremors, hypotonia, hypertonia, developmental disabilities [extern.synlab.com]

  Treatment Argininemia is a rare disorder and few patients have been treated from an early age, prior to onset of disabling symptoms. [genico.ch]

• Weakness

  An 8-month-old girl was admitted to an outpatient clinic with significant hypotonia and weakness. Organic acid analysis in urine revealed a significant increase in ethylmalonic acid. [ncbi.nlm.nih.gov]

  […] and hypotonia; exercise-induced weakness or cramping; after exercise, decreased purine release and low increase in plasma ammonia (relative to lactate); Treatment : Ribose or xylitol Adenylate kinase deficiency OMIN: 103000, 612631 Synonyms: AK-deficiency [extern.synlab.com]

  Those patients with symptoms have tended to display developmental delay, seizure disorder, or progressive muscle weakness in infancy and childhood. [genico.ch]

• Fever

  […] the general population, these are considered to be genetic sensitivity variations rather than causing a disease themselves and to result in possible short-chain acyl-coenzyme A dehydrogenase deficiency in the presence of environmental factors such as fever [ncbi.nlm.nih.gov]

  Symptoms can be initiated by a dietary protein load, infection or fever. Symptoms progress from vomiting to dehydration and ketoacidosis. Neutropenia and thrombocytopenia may be present, as can moderate hyperammonemia. [genico.ch]

• Malnutrition

  Reduction of lysine intake while avoiding malnutrition–major goals and major problems in dietary treatment of glutaryl-CoA dehydrogenase deficiency. J Inherit Metab Dis. 2004;27:903–10. [ncbi.nlm.nih.gov]

  Early diagnosis of cystic fibrosis through newborn Screening prevents severe malnutrition and improves long term growth. Paediatrics 2001; 107: 1-13. Siret D, Bretaudeau G, et al. [genico.ch]

• Diarrhea

  Protracted diarrhea was not a consistent finding, although they had metabolic crisis in association with diarrhea. They did not show failure to thrive. The neurologic symptoms were indicative of a progressive pyramidal tract disease. [ncbi.nlm.nih.gov]

  Poor feeding, poor weight gain, vomiting and diarrhea, lethargy, and hypotonia are initial symptoms. [genico.ch]

• Failure to Thrive

  They did not show failure to thrive. The neurologic symptoms were indicative of a progressive pyramidal tract disease. Three patients died following sudden emergence of severe basal ganglia, putaminal and head of caudate lesions. [ncbi.nlm.nih.gov]

  Failure to thrive, vomiting, and hypoglycemia may be seen. [genico.ch]

• Chronic Diarrhea

  Other clinical features were severe hypotonia, orthostatic acrocyanosis, and chronic diarrhea. [ncbi.nlm.nih.gov]

• Acrocyanosis

  Other clinical features were severe hypotonia, orthostatic acrocyanosis, and chronic diarrhea. [ncbi.nlm.nih.gov]

• Muscle Hypotonia

  The picture of methymalonic acidemia as recurrent vomiting, dehydration, respiratory distress, muscle hypotonia, and lethargy that can lead to coma and death is often seen in the first week of life. Metabolic acidosis is pronounced. [genico.ch]

• Muscle Weakness

  Those patients with symptoms have tended to display developmental delay, seizure disorder, or progressive muscle weakness in infancy and childhood. [genico.ch]

• Petechiae

  In three patients, biopsies from petechiae indicated absence of an immune event, showing only fresh hemorrhage. [ncbi.nlm.nih.gov]

  […] nerveux central pathologie Système nerveux pathologie Keyword (en) Organic acids Aciduria Enzymatic activity Cytochrome-c oxidase Encephalopathy Case study Female Sibling Nuclear magnetic resonance imaging Striated muscle Male Infant Pathophysiology Petechia [pascal-francis.inist.fr]

• Retinal Lesion

  All patients showed retinal lesions characterized by tortuous veins. Protracted diarrhea was not a consistent finding, although they had metabolic crisis in association with diarrhea. They did not show failure to thrive. [ncbi.nlm.nih.gov]

• Suggestibility

  In one patient the CT changes in brain were suggestive of infarction. The patients who died manifested pulmonary congestion, or wet lung, and respiratory difficulties during the terminal stage of the disease. [ncbi.nlm.nih.gov]

  The finding of elevated five-carbon acylcarnitine (C5) suggests the metabolic defect. To make a diagnosis, further testing is required. [genico.ch]

• Hunger

  […] population, these are considered to be genetic sensitivity variations rather than causing a disease themselves and to result in possible short-chain acyl-coenzyme A dehydrogenase deficiency in the presence of environmental factors such as fever and hunger [ncbi.nlm.nih.gov]

• Hematuria

  In all patients before and during the terminal event, mild-to-moderate hematuria, and in two RBC in CSF, was observed. In one patient there was mild hemoperitoneum at the terminal event. [ncbi.nlm.nih.gov]

  The patient may be hypoglycemic with fasting and have metabolic acidosis, elevated liver enzymes with hepatomegaly (due to steatosis), cholestasis, hypertrophic cardiomyopathy, proteinuria, and hematuria. [genico.ch]

• Encephalopathy

  We report a boy 20 months of age with encephalopathy, petechiae, and ethylmalonic aciduria (EPEMA). Other clinical features were severe hypotonia, orthostatic acrocyanosis, and chronic diarrhea. [ncbi.nlm.nih.gov]

  Encéphale pathologie Enzyme Homme Imagerie médicale Maladie héréditaire Métabolisme Oxidoreductases Peau pathologie Système nerveux central pathologie Système nerveux pathologie Keyword (en) Organic acids Aciduria Enzymatic activity Cytochrome-c oxidase Encephalopathy [pascal-francis.inist.fr]

• Convulsions

  […] trouble autosomique récessif; trouble rare du métabolisme de la pyrimidine décrit chez moins de 10 patients à ce jour; Profil de laboratoire : Dihydrouracile urinaire élevé et dihydrothrine; Caractéristiques cliniques : Variable; problèmes d'alimentation, convulsions [extern.synlab.com]

Workup of such patients includes measuring plasma amino acids and looking for succinylacetone on urine organic acid analysis. [genico.ch]

The disease is not responsive to treatment with riboflavin, ascorbic acid, vitamin E, glycine, or carnitine. One patient remained stable on prolonged large doses of methylprednisolone. [ncbi.nlm.nih.gov]

[…] nucleoside triphosphate pyrophospho-hydrolase Prevalence: unknown, autosomal recessive disorder; Laboratory profile : Ca pyrophosphate dihydrate crystals in joints; Clinical features : Recurrent episodes of monoarticular or multiarticular arthritis, Treatment [extern.synlab.com]

Treatment Oral hydrocortisone in a physiologic replacement dose is the treatment of choice for CAH. [genico.ch]

With appropriate monitoring and therapy, there is a good prognosis for normal development. [genico.ch]

The etiology in 70 to 80% of the non-familial cases is unknown. [genico.ch]

Population and epidemiology information point to G6PD deficiency as providing some resistance to malaria. Clinical Babies with G6PD deficiency appear normal at birth. [genico.ch]

[…] pathologie Système nerveux central pathologie Système nerveux pathologie Keyword (en) Organic acids Aciduria Enzymatic activity Cytochrome-c oxidase Encephalopathy Case study Female Sibling Nuclear magnetic resonance imaging Striated muscle Male Infant Pathophysiology [pascal-francis.inist.fr]

The pathophysiology and molecular biology vary among different forms of SCID, however, the lack of T-cell and B-cell function is the common endpoint in all forms of SCID. [genico.ch]

Avoidance of fasting is important to prevent symp- tomatic episodes. [genico.ch]

Clinical course, early diagnosis, treatment, and prevention of disease in glutaryl-CoA dehydrogenase deficiency. Neuropediatrics. 1996;27:115–23. [ncbi.nlm.nih.gov]