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8 Possible Causes for Pyruvate Dehydrogenase Complex Activity Decreased

  • Inherited Congenital Spastic Tetraplegia

    activity of the pyruvate dehydrogenase complex Intrauterine growth retardation Thrombocytopenia Rod-cone dystrophy Dysmetria Focal seizures Exotropia Generalized amyotrophy[mendelian.co] Perseveration Dysesthesia Cerebral amyloid angiopathy Severe global developmental delay Chronic diarrhea Sleep disturbance Cerebral edema Profound global developmental delay Decreased[mendelian.co]

  • MELAS Syndrome

    By inhibiting the pyruvate-dehydrogenase complex kinase, dichloroacetate activates the pyruvate dehydrogenase complex and increases the consumption of pyruvate ( Figure 3[dx.doi.org] In MELAS, dichloroacetate has been shown to decrease the level of lactic acid.[dx.doi.org] Idebenone has the theoretical advantage of crossing the blood-brain barrier, and case reports suggest that this drug improves mitochondrial metabolism in the brain and decreases[dx.doi.org]

  • Gaucher Disease, Collodion Type

    Hyperalaninemia Poor fine motor coordination Decreased activity of the pyruvate dehydrogenase complex Subependymal cysts Arthritis Projectile vomiting Poor gross motor coordination[mendelian.co] Trigonocephaly Lipoma Spastic diplegia Partial agenesis of the corpus callosum Difficulty running Severe lactic acidosis Corpus callosum atrophy Poor coordination Increased serum pyruvate[mendelian.co]

  • Isolated CoQ-Cytochrome C Reductase Deficiency

    Decreased activity of the pyruvate dehydrogenase complex Abnormality of movement Decreased liver function Absent speech Glutaric aciduria Apathy Pigmentary retinopathy Neurological[mendelian.co] activity of mitochondrial respiratory chain Lethargy Hypoglycemia Spastic tetraparesis Blindness Mental deterioration Leukodystrophy Delayed speech and language development[mendelian.co] Symptoms - Less than 30% cases Progressive neurologic deterioration Myoclonus Anemia Ptosis Sensorineural hearing impairment Hyperreflexia Infantile onset Spasticity Fatigue Decreased[mendelian.co]

  • Pyruvate Carboxylase Deficiency

    The diagnosis is established by finding decreased activity of one or more of the pyruvate dehydrogenase complex enzymes in cultured fibroblasts, liver tissue, skeletal muscle[pediatricneuro.com]

  • Fatal Multiple Mitochondrial Dysfunctions Syndrome

    activity of the pyruvate dehydrogenase complex Respiratory failure Ketoacidosis Hyperventilation Hypertension Muscle weakness Episodic ketoacidosis Methylmalonic aciduria[mendelian.co] Ketonuria Decreased activity of mitochondrial respiratory chain Intellectual disability Short stature Chronic constipation Hyperemesis gravidarum Elevated plasma acylcarnitine[mendelian.co] […] lactic acidosis Cognitive impairment Growth delay Aciduria Recurrent hypoglycemia Pulmonary arterial hypertension Peripheral demyelination Irritability Loss of consciousness Decreased[mendelian.co]

  • Combined Oxidative Phosphorylation Defect Type 11

    activity of mitochondrial respiratory chain Decreased activity of the pyruvate dehydrogenase complex Hyperglycinemia Malnutrition Poor head control Abnormality of extrapyramidal[mendelian.co] […] weakness Abnormality of the liver Myalgia Facial palsy Gastroesophageal reflux Progressive Constipation Pica Ketosis Autosomal dominant inheritance Nonketotic hyperglycinemia Decreased[mendelian.co]

  • Al-Gazali-Dattani Syndrome

    activity of the pyruvate dehydrogenase complex (PDH); Decreased activity of the E2 subunit (lipoyl transacetylase, 608770) of the PDH; Decreased levels of the E2 subunit[findzebra.com] […] movements; MRI shows globus pallidus signal abnormalities METABOLIC FEATURES: Lactic acidosis, may be mild LABORATORY ABNORMALITIES: Serum and CSF lactate may be increased; Decreased[findzebra.com]

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