Edema, and Increased serum lactate

Diseases related with Edema and Increased serum lactate

In the following list you will find some of the most common rare diseases related to Edema and Increased serum lactate that can help you solving undiagnosed cases.

Top matches:

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Feeding difficulties
  • Edema
  • Blindness


SOURCES: OMIM MENDELIAN

More info about COENZYME Q10 DEFICIENCY, PRIMARY, 3; COQ10D3

Combined oxidative phosphorylation deficiency-28 (COXPD28) is a complex autosomal recessive multisystem disorder associated with mitochondrial dysfunction. The phenotype is variable, but includes episodic metabolic decompensation beginning in infancy that can result in mild muscle weakness, cardiorespiratory insufficiency, developmental delay, or even death. Biochemical studies of patient tissues show variable mitochondrial defects, including decreased activities of respiratory chain enzymes (summary by Kishita et al., 2015).For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (OMIM ).

NEONATAL SEVERE CARDIOPULMONARY FAILURE DUE TO MITOCHONDRIAL METHYLATION DEFECT Is also known as combined oxidative phosphorylation defect type 28|coxpd28

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Muscle weakness
  • Pain
  • Hypertension


SOURCES: OMIM ORPHANET MENDELIAN

More info about NEONATAL SEVERE CARDIOPULMONARY FAILURE DUE TO MITOCHONDRIAL METHYLATION DEFECT

Early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy (PEBEL) is an autosomal recessive severe neurometabolic disorder characterized by rapidly progressive neurologic deterioration that is usually associated with a febrile illness. Affected infants tend to show normal early development followed by acute psychomotor regression with ataxia, hypotonia, respiratory insufficiency, and seizures, resulting in coma and death in the first years of life. Brain imaging shows multiple abnormalities, including brain edema and signal abnormalities in the cortical and subcortical regions (summary by Kremer et al., 2016).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY; PEBEL

Other less relevant matches:

Combined oxidative phosphorylation defect type 2 is a rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by severe intrauterine growth retardation, neonatal limb edema and redundant skin on the neck (hydrops), developmental brain defects (corpus callosum agenesis, ventriculomegaly), brachydactyly, dysmorphic facial features with low set ears, severe intractable neonatal lactic acidosis with lethargy, hypotonia, absent spontaneous movements and fatal outcome. Markedly decreased activity of complex I, II + III and IV in muscle and liver have been determined.

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 2 Is also known as coxpd2|corpus callosum, agenesis of, with dysmorphism and fatal lactic acidosis

Related symptoms:

  • Abnormal facial shape
  • Low-set ears
  • Brachydactyly
  • Ventriculomegaly
  • Edema


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 2

This syndrome is characterised by severe hypotonia, lactic academia and congenital hyperammonaemia.

HYPOTONIA WITH LACTIC ACIDEMIA AND HYPERAMMONEMIA Is also known as combined oxidative phosphorylation defect type 5|coxpd5

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Growth delay
  • Muscular hypotonia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about HYPOTONIA WITH LACTIC ACIDEMIA AND HYPERAMMONEMIA

Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency is a rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by lactic acidosis, hypotonia, hypertrophic cardiomyopathy and global developmental delay. Other clinical features include feeding difficulties, failure to thrive, seizures, optic atrophy and ataxia.

MITOCHONDRIAL HYPERTROPHIC CARDIOMYOPATHY WITH LACTIC ACIDOSIS DUE TO MTO1 DEFICIENCY Is also known as cardiomyopathy, infantile hypertrophic mitochondrial, and lactic acidosis|coxpd10|combined oxidative phosphorylation defect type 10

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about MITOCHONDRIAL HYPERTROPHIC CARDIOMYOPATHY WITH LACTIC ACIDOSIS DUE TO MTO1 DEFICIENCY

Lipoic acid synthetase deficiency is a rare neurometabolic disease characterized by a neonatal onset of seizures (often intractable), muscular hypotonia, feeding difficulties (poor sucking and/or swallowing) and mild to severe psychomotor delay, associated with nonketotic hyperglycinemia typically revealed by biochemical analysis. Respiratory problems (apnea, acute respiratory acidosis), lethargy, hearing loss, microcephaly and spasticity with pyramidal signs may also be associated.

LIPOIC ACID SYNTHETASE DEFICIENCY Is also known as pyruvate dehydrogenase lipoic acid synthetase deficiency|pdhld

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about LIPOIC ACID SYNTHETASE DEFICIENCY

Mitochondrial myopathy and sideroblastic anemia belongs to the heterogeneous family of metabolic myopathies. It is characterised by progressive exercise intolerance manifesting in childhood, onset of sideroblastic anaemia around adolescence, lactic acidaemia, and mitochondrial myopathy.

MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA Is also known as msa|mlasa|myopathy, lactic acidosis and sideroblastic anemia|mitochondrial myopathy and sideroblastic anemia

Related symptoms:

  • Intellectual disability
  • Seizures
  • Microcephaly
  • Scoliosis
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA

Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency is characterised by delayed motor development, hypotonia and progressive neurodegeneration. To date, it has been described in four boys. The syndrome is caused by mutations affecting the two alleles of the HIBCH gene, encoding 3-hydroxyisobutyryl-CoA hydrolase. The mode of transmission has not yet been established.

NEURODEGENERATION DUE TO 3-HYDROXYISOBUTYRYL-COA HYDROLASE DEFICIENCY Is also known as beta-hydroxyisobutyryl coa deacylase deficiency|valine metabolic defect|methacrylic aciduria|hibch deficiency|methacrylic acid toxicity

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about NEURODEGENERATION DUE TO 3-HYDROXYISOBUTYRYL-COA HYDROLASE DEFICIENCY

Acyl-CoA dehydrogenase 9 (ACAD9) deficiency is a rare disorder leading to a deficiency of complex I of the respiratory chain and is characterized by neurological dysfunction, hepatic failure and cardiomyopathy.

ACYL-COA DEHYDROGENASE 9 DEFICIENCY Is also known as acyl-coa dehydrogenase 9 deficiency|acad9 deficiency

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness
  • Muscular hypotonia


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about ACYL-COA DEHYDROGENASE 9 DEFICIENCY

Top 5 symptoms//phenotypes associated to Edema and Increased serum lactate

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Lactic acidosis Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Acidosis Common - Between 50% and 80% cases
Encephalopathy Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Edema and Increased serum lactate. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Muscular hypotonia Global developmental delay Metabolic acidosis Failure to thrive Cardiomyopathy Hypertrophic cardiomyopathy Muscle weakness Feeding difficulties Cerebral atrophy Microcephaly Growth delay Severe lactic acidosis Spastic tetraplegia Ataxia Cerebral edema Myoclonus Congestive heart failure Respiratory insufficiency

Rare Symptoms - Less than 30% cases

Abnormal facial shape Low-set ears Ventriculomegaly Patent ductus arteriosus Agenesis of corpus callosum Elevated hepatic transaminase Small for gestational age Lethargy Exercise intolerance Stroke Myopathy Redundant neck skin Spasticity Decreased activity of the pyruvate dehydrogenase complex Decreased activity of mitochondrial respiratory chain Infantile muscular hypotonia Hypoglycemia Muscular hypotonia of the trunk Dystonia Motor delay Dilated cardiomyopathy Ascites Tetraplegia Cognitive impairment Encephalomalacia Intellectual disability Generalized edema Optic atrophy Neonatal hypotonia Vomiting Respiratory failure Bradycardia Ragged-red muscle fibers Decreased activity of mitochondrial complex I Strabismus Blindness Developmental regression Nystagmus Tetraparesis Leukoencephalopathy Progressive encephalopathy Cytochrome C oxidase-negative muscle fibers Neurodegeneration Kyphosis Dysmetria Hypertonia Hyperreflexia Epicanthus Cryptorchidism Short nose Chronic lactic acidosis Long philtrum Generalized limb muscle atrophy Erythroid hyperplasia Hypochromic anemia Abnormality of metabolism/homeostasis Pallor Sideroblastic anemia Distichiasis Stroke-like episode Mitochondrial myopathy Tetralogy of Fallot Increased serum ferritin Microcytic anemia Glaucoma EMG abnormality Progressive muscle weakness Delayed puberty Aciduria Titubation Abnormal vertebral morphology Hyperammonemia Elevated plasma acylcarnitine levels Increased lactate dehydrogenase activity Elevated creatine kinase after exercise Nonketotic hypoglycemia Macrovesicular hepatic steatosis Dicarboxylic aciduria Microvesicular hepatic steatosis Proximal tubulopathy Prolonged prothrombin time Decreased plasma carnitine Acute hepatic failure Fatigable weakness EMG: myopathic abnormalities Decreased liver function Truncal ataxia Left ventricular hypertrophy Ventricular hypertrophy Sudden cardiac death Generalized muscle weakness Hepatic steatosis Hepatic failure Myalgia Depressivity Thrombocytopenia Renal insufficiency Acute encephalopathy High palate Abnormality of the vertebral column Aminoaciduria Pneumonia Vegetative state Anemia Caesarian section Fatigue Abdominal pain Polyhydramnios Chronic metabolic acidosis Abnormality of the amniotic fluid Abnormality of the renal tubule Decreased fetal movement Delayed myelination Abnormality of mitochondrial metabolism Poor appetite Increased serum pyruvate Retrognathia Posteriorly rotated ears Hypoplasia of the corpus callosum Hepatomegaly Decreased activity of mitochondrial complex IV Tremor Hypokinesia Redundant skin Abnormality of the cerebral white matter Coma Feeding difficulties in infancy Brain atrophy Progressive neurologic deterioration Brachydactyly Increased CSF lactate Cerebellar edema Myelopathy Infantile encephalopathy Hypertension Pain Ptosis Proteinuria Micrognathia Scoliosis Nonketotic hyperglycinemia Skin erosion Hyperglycinemia Profound global developmental delay Poor suck Spastic tetraparesis Leukodystrophy Sleep disturbance Severe global developmental delay Respiratory tract infection Apnea Hydrocephalus Episodic vomiting Flexion contracture Nephrotic syndrome Hyperalaninemia Sinus bradycardia Wolff-Parkinson-White syndrome Ketonuria Aspiration pneumonia Pleural effusion Status epilepticus Cardiomegaly Tachycardia Poor speech Cerebral visual impairment Arrhythmia Cerebellar hemorrhage


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