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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[] Perseveration Dysesthesia Cerebral amyloid angiopathy Severe global developmental delay Chronic diarrhea Sleep disturbance Cerebral edema Profound global developmental delay Decreased[]

  • MELAS Syndrome

    By inhibiting the pyruvate-dehydrogenase complex kinase, dichloroacetate activates the pyruvate dehydrogenase complex and increases the consumption of pyruvate ( Figure 3[] In MELAS, dichloroacetate has been shown to decrease the level of lactic acid.[] 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[]

  • 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[] Trigonocephaly Lipoma Spastic diplegia Partial agenesis of the corpus callosum Difficulty running Severe lactic acidosis Corpus callosum atrophy Poor coordination Increased serum pyruvate[]

  • 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[] activity of mitochondrial respiratory chain Lethargy Hypoglycemia Spastic tetraparesis Blindness Mental deterioration Leukodystrophy Delayed speech and language development[] Symptoms - Less than 30% cases Progressive neurologic deterioration Myoclonus Anemia Ptosis Sensorineural hearing impairment Hyperreflexia Infantile onset Spasticity Fatigue Decreased[]

  • 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[]

  • Fatal Multiple Mitochondrial Dysfunctions Syndrome

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

  • 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[] […] weakness Abnormality of the liver Myalgia Facial palsy Gastroesophageal reflux Progressive Constipation Pica Ketosis Autosomal dominant inheritance Nonketotic hyperglycinemia Decreased[]

  • 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[] […] movements; MRI shows globus pallidus signal abnormalities METABOLIC FEATURES: Lactic acidosis, may be mild LABORATORY ABNORMALITIES: Serum and CSF lactate may be increased; Decreased[]

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