Deficiencia de nucle&sido fosforilasa, Deficiencia de piruvato carboxilasa con acidemia láctica, Deficiencia de piruvato deshidrogenasa, uploader avatar Iliana Narváez · r verde indicios. uploaded by. uploader avatar Iliana Narváez · tipos de lideres. uploaded by. uploader avatar Iliana Narváez. La deficiencia de glucosafosfato deshidrogenasa, es el defecto enzimático más común en humanos y presenta patrón de herencia ligado al cromosoma X.
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Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed. Pyruvate dehydrogenase deficiency PDHD is a rare neurometabolic disorder characterized by a wide range of clinical signs with metabolic deshidrogenasw neurological components of varying severity. Manifestations range from often fatal, severe, neonatal lactic acidosis to later-onset neurological disorders.
Six subtypes related to the affected subunit of the PDH complex have been recognized with significant clinical overlap: PDHD may affect fetal development, with poor fetal weight gain and drshidrogenasa birth weight being noted.
Characteristic facial dysmorphism has only been described in some patients narrow head, frontal bossing, wide nasal bridge, long philtrum and flared nostrils. Structural brain lesions are commonly observed, especially in females. Other patients develop symptoms soon after birth. Some have a primarily metabolic-type picture potentially fatal lactic acidosis, occasionally with hyperammonemia, poor feeding, lethargy, tachypnea and few neurological signs, while others have mainly neurological signs developmental delay, growth retardation, poor acquisition or desihdrogenasa of motor milestones, hypotonia, seizures, ataxia and dystonia.
Symptoms may occur in periods of stress or illness in the less severe, later-onset cases. Many patients have the characteristic clinical presentation, disease course and neuropathological changes of Leigh syndrome see this deshidrogenaa.
Mutations in the genes for dd other subunits have been described, but are far less frequent: PDHD should be considered in cases of early-onset neurological disease and unexplained lactic acidosis, particularly if there are structural cerebral abnormalities.
In many cases, lactate concentration in cerebrospinal fluid CSF is disproportionately increased compared to blood lactate. Definitive diagnosis is made by demonstrating abnormal enzyme function and immunochemical demonstration of a specific subunit piduvato.
Differential diagnosis includes other causes of primary lactic acidosis pyruvate carboxylase deficiency, defects of gluconeogenesis and a wide range of mitochondrial diseases. In patients presenting as Leigh syndrome, the differential diagnosis includes various forms of Complex Piruvat deficiency see this termcytochrome oxidase deficiency due to mutation in the SURF1 gene and a number of mitochondrial DNA mutations.
Due to the severity of PDHD, prenatal diagnosis is requested in affected families chorionic villi or amniocyte testing.
Most cases are due to mutations in the PDHA1 gene and are thus inherited as an X-linked dominant trait. As patients almost always have severe deficirncia and greatly reduced life expectancy, most new cases are sporadic. Inheritance of all other forms of PDHD is autosomal recessive.
Treatment is generally aimed at stimulating the PDH complex or providing an alternative energy source for the brain. Feshidrogenasa supplementation with thiamine, carnitine, and lipoic acid has been recommended. A very small number of patients with mutations in the PDHA1 gene are thiamine-responsive.
A ketogenic diet may be indicated especially for those presenting with a dystonic disorder. Dichloroacetate has been used but significant side effects, such as peripheral neuropathy, may limit effectiveness.
Orphanet: Deficiencia de piruvato deshidrogenasa
No treatment has an effect on preventing prenatal development of structural pruvato nervous system anomalies. Prognosis is variable but is generally poor in terms of impact on development and life expectancy.
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Check this box if you wish to receive a copy of your message. Disease definition Pyruvate dehydrogenase deficiwncia PDHD is a rare neurometabolic disorder characterized by a wide range of clinical signs with metabolic and neurological components of varying severity. Summary Epidemiology Exact prevalence is unknown but hundreds of cases have been reported. Clinical description PDHD may affect fetal development, with poor fetal weight gain and low birth weight being noted.
Diagnostic methods PDHD should be considered in cases of early-onset neurological disease and unexplained lactic acidosis, particularly if there are structural cerebral abnormalities. Differential diagnosis Differential diagnosis includes other causes of primary lactic acidosis pyruvate carboxylase deficiency, defects of gluconeogenesis and a wide range of mitochondrial diseases.
Antenatal diagnosis Due to deficienncia severity of PDHD, prenatal diagnosis is requested deficiebcia affected families chorionic villi or amniocyte testing. Genetic counseling Most cases are due to mutations in the PDHA1 gene and are thus inherited as an X-linked dominant trait.
Management and treatment Treatment is generally aimed at stimulating the PDH complex or providing an alternative energy source for the brain. Prognosis Prognosis is variable but is generally poor in terms of impact on development and life expectancy.
Tríptico de la deficiencia de piruvato deshidrogenasa
Detailed information Article for general public Svenska Additional information Further information on this disease Classification s 5 Gene s 6 Clinical signs and symptoms Publications in PubMed Other website s 5.
Health care resources for this disease Expert centres Diagnostic tests Patient organisations 70 Orphan drug s 1. Specialised Social Services Eurordis directory. The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as deficiencua basis for diagnosis or treatment.