Peripheral neuropathy, and Metabolic acidosis

Diseases related with Peripheral neuropathy and Metabolic acidosis

In the following list you will find some of the most common rare diseases related to Peripheral neuropathy and Metabolic acidosis that can help you solving undiagnosed cases.


Top matches:

Low match COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33; COXPD33


COXPD33 is an autosomal recessive multisystem disorder resulting from a defect in mitochondrial energy metabolism. The phenotype is highly variable, ranging from death in infancy to adult-onset progressive external ophthalmoplegia (PEO) and myopathy. A common finding is cardiomyopathy and increased serum lactate (summary by Feichtinger et al., 2017).For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (OMIM ).

Related symptoms:

  • Muscle weakness
  • Ptosis
  • Peripheral neuropathy
  • Hepatomegaly
  • Fatigue


SOURCES: OMIM MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33; COXPD33

Low match EAST SYNDROME


SeSAME syndrome is characterized by seizures, sensorineural deafness, ataxia, intellectual deficit, and electrolyte imbalance (hypokalemia, metabolic alkalosis, and hypomagnesemia).

EAST SYNDROME Is also known as sesame syndrome|epilepsy-ataxia-sensorineural deafness-tubulopathy syndrome|seizures-sensorineural deafness-ataxia-intellectual disability-electrolyte imbalance syndrome|east syndrome|epilepsy, ataxia, sensorineural deafness, and tubulopathy

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about EAST SYNDROME

Low match FATAL MITOCHONDRIAL DISEASE DUE TO COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 3


Combined oxidative phosphorylation deficiency type 3 is an extremely rare clinically heterogenous disorder described in about 5 patients to date. Clinical signs included hypotonia, lactic acidosis, and hepatic insufficiency, with progressive encephalomyopathy or hypertrophic cardiomyopathy.

FATAL MITOCHONDRIAL DISEASE DUE TO COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 3 Is also known as fatal mitochondrial disease due to coxpd3|encephalomyopathy, respiratory failure, and lactic acidosis|concentric cardiomyopathy, hypotonia, and lactic acidosis

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about FATAL MITOCHONDRIAL DISEASE DUE TO COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 3

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Other less relevant matches:

Low match HEREDITARY COPROPORPHYRIA


Hereditary coproporphyria is a form of acute hepatic porphyria (see this term) characterized by the occurrence of neuro-visceral attacks and, more rarely, by the presence of cutaneous lesions.

HEREDITARY COPROPORPHYRIA Is also known as cpox deficiency|cpx deficiency|coproporphyrinogen oxidase deficiency|cpo deficiency

Related symptoms:

  • Seizures
  • Muscle weakness
  • Pain
  • Anemia
  • Hypertension


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about HEREDITARY COPROPORPHYRIA

Low match INFANTILE CEREBELLAR-RETINAL DEGENERATION


Infantile cerebellar-retinal degeneration is a rare, neurodegenerative disorder characterized by an early onset of truncal hypotonia, variable forms of seizures, athetosis, severe global developmental delay, intellectual disability and various ophthalmologic abnormalities, including strabismus, nystagmus, optic atrophy and retinal degeneration.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about INFANTILE CEREBELLAR-RETINAL DEGENERATION

Low match MITOCHONDRIAL DNA DEPLETION SYNDROME, HEPATOCEREBRAL FORM DUE TO DGUOK DEFICIENCY


Mitochondrial DNA depletion syndrome-3 is a severe autosomal recessive disorder characterized by onset in infancy of progressive liver failure and neurologic abnormalities, hypoglycemia, and increased lactate in body fluids. Affected tissues show both decreased activity of the mtDNA-encoded respiratory chain complexes (I, III, IV, and V) and mtDNA depletion (Mandel et al., 2001).For a discussion of genetic heterogeneity of autosomal recessive mtDNA depletion syndromes, see MTDPS1 (OMIM ).

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Growth delay
  • Nystagmus


SOURCES: OMIM ORPHANET MENDELIAN

More info about MITOCHONDRIAL DNA DEPLETION SYNDROME, HEPATOCEREBRAL FORM DUE TO DGUOK DEFICIENCY

Low match PRIMARY HYPEROXALURIA TYPE 1


Primary hyperoxaluria type 1 (PH1) is a rare disorder of glyoxylate metabolism characterized by the accumulation of oxalate due to a deficiency of the peroxisomal hepatic enzyme L-alanine: glyoxylate aminotransferase (AGT). Clinical presentation is variable, ranging from occasional symptomatic nephrolithiasis to nephrocalcinosis and end-stage renal disease with systemic involvement.

PRIMARY HYPEROXALURIA TYPE 1 Is also known as glycolic aciduria|peroxisomal alanine:glyoxylate aminotransferase deficiency|peroxisomal alanine-glyoxylate aminotransferase deficiency|hepatic agt deficiency|alanine-glyoxylate aminotransferase deficiency|serine:pyruvate aminotransferase deficiency|oxalo

Related symptoms:

  • Failure to thrive
  • Pain
  • Anemia
  • Peripheral neuropathy
  • Fever


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about PRIMARY HYPEROXALURIA TYPE 1

Low match MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY; MTPD


The mitochondrial trifunctional protein, composed of 4 alpha and 4 beta subunits, catalyzes 3 steps in mitochondrial beta-oxidation of fatty acids: long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD), long-chain enoyl-CoA hydratase, and long-chain thiolase activities. Trifunctional protein deficiency is characterized by decreased activity of all 3 enzymes. Clinically, classic trifunctional protein deficiency can be classified into 3 main clinical phenotypes: neonatal onset of a severe, lethal condition resulting in sudden unexplained infant death (SIDS ), infantile onset of a hepatic Reye-like syndrome, and late-adolescent onset of primarily a skeletal myopathy (Spiekerkoetter et al., 2003).Some patients with MTP deficiency show a protracted progressive course associated with myopathy, recurrent rhabdomyolysis, and sensorimotor axonal neuropathy. These patients tend to survive into adolescence and adulthood (den Boer et al., 2003).See also isolated LCHAD deficiency (OMIM ), which is caused by mutation in the HADHA gene.

MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY; MTPD Is also known as trifunctional protein deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY; MTPD

Low match MEGDEL SYNDROME


MEGDEL syndrome is a rare, genetic, neurometabolic disorder characterized by neonatal hypoglycemia, features of sepsis that are not linked to infection, development of feeding problems, failure to thrive, transient liver dysfunction, and truncal hypotonia followed by dystonia and spasticity which results in psychomotor development arrest and/or regression. Progressive sensorineural deafness, intellectual disability and absent speech are also associated. Laboratory tests demonstrate 3-methylglutaconic aciduria and temporary elevated serum lactate and transaminases.

MEGDEL SYNDROME Is also known as mgca6|3-methylglutaconic aciduria with deafness-encephalopathy-leigh-like syndrome|3-methylglutaconic aciduria with dystonia-deafness, hepatopathy, encephalopathy, and leigh-like syndrome|megdhel|3-methylglutaconic aciduria, type vi

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about MEGDEL SYNDROME

Low match LONG CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY


Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood with hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and frequently cardiac involvement with arrhythmias and/or cardiomyopathy.

LONG CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY Is also known as lchad deficiency|long-chain 3-hydroxyacyl-coenzyme a dehydrogenase deficiency|lchadd

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about LONG CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY

Top 5 symptoms//phenotypes associated to Peripheral neuropathy and Metabolic acidosis

Symptoms // Phenotype % cases
Acidosis Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Failure to thrive Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Peripheral neuropathy and Metabolic acidosis. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Vomiting

Uncommon Symptoms - Between 30% and 50% cases


Elevated hepatic transaminase Abnormality of the liver Encephalopathy Muscular hypotonia Feeding difficulties Hepatomegaly Hypoglycemia Peripheral axonal neuropathy Pain Jaundice Hepatic failure Hepatic steatosis Lactic acidosis Ataxia Optic atrophy Intellectual disability Muscle weakness Myopathy Cardiomyopathy Edema Sensorineural hearing impairment Elevated serum creatine phosphokinase Visual loss Microcephaly Dilated cardiomyopathy Nausea Cerebellar atrophy Hypertension Rhabdomyolysis Polyneuropathy Retinopathy Increased serum lactate Hearing impairment Decreased liver function Abnormality of metabolism/homeostasis

Rare Symptoms - Less than 30% cases


Hyporeflexia Ragged-red muscle fibers Visual impairment Sensorimotor neuropathy Brain atrophy Ventriculomegaly Respiratory insufficiency Respiratory failure Dystonia Feeding difficulties in infancy Hypertrophic cardiomyopathy Recurrent respiratory infections Hyperammonemia Optic neuropathy Hypoketotic hypoglycemia Abdominal pain Areflexia Congestive heart failure Myalgia Respiratory tract infection Nausea and vomiting Growth delay Splenomegaly Severe lactic acidosis Respiratory distress Coma Hypotension Anemia Acute hepatic steatosis Tachypnea Nystagmus Cognitive impairment Retinal dystrophy Hyponatremia Enuresis Generalized-onset seizure Progressive external ophthalmoplegia External ophthalmoplegia Aciduria Demyelinating peripheral neuropathy Abnormality of the coagulation cascade Motor delay Renal insufficiency Tremor Ophthalmoplegia Fatigue Pigmentary retinopathy Constipation Stage 5 chronic kidney disease Recurrent urinary tract infections Progressive visual loss Dilatation Sensory impairment Depletion of mitochondrial DNA in liver Hematuria Fever Stroke Distal sensory impairment Difficulty walking Muscle cramps Distal muscle weakness Small for gestational age Lethargy Abnormality of the dentition Abnormality of the skeletal system Generalized muscle weakness Calcium oxalate nephrolithiasis Nephrolithiasis Acrocyanosis Intermittent claudication Decreased glomerular filtration rate Hyperoxaluria Choroidal neovascularization Chills Pyelonephritis Calcinosis Dysuria Calcinosis cutis Peripheral arterial stenosis Raynaud phenomenon Gangrene Flank pain Heart block Pathologic fracture Cutis marmorata Arterial occlusion Atrioventricular block Atherosclerosis Nephrocalcinosis Abnormality of circulating enzyme level Bladder stones Retinal crystals Increased bone mineral density Bone pain Absent speech Hydrops fetalis Chorioretinal atrophy Ketotic hypoglycemia 3-Methylglutaric aciduria Myopia Macrocephaly Photophobia Nyctalopia Hypopigmentation of the skin Peripheral demyelination Anorexia Exotropia Abnormality of retinal pigmentation Hypocalcemia Abnormal electroretinogram Loss of consciousness Multiple lipomas Increased total bilirubin Preeclampsia Recurrent hypoglycemia Cholestatic liver disease Reduced consciousness/confusion Decreased plasma carnitine Abnormal left ventricle morphology Hepatic encephalopathy Abnormal chorioretinal morphology Gastrointestinal inflammation Elevated plasma acylcarnitine levels Reye syndrome-like episodes Posterior staphyloma Decreased activity of 3-hydroxyacyl-CoA dehydrogenase Abnormality of acid-base homeostasis Neonatal sepsis Psychomotor deterioration Cardiac arrest Recurrent infections Decreased nerve conduction velocity Tricuspid regurgitation Myoglobinuria Hypoparathyroidism Skeletal myopathy Progressive peripheral neuropathy Abnormality of the amniotic fluid Recurrent myoglobinuria Prenatal maternal abnormality Exercise-induced rhabdomyolysis Respiratory failure requiring assisted ventilation Scoliosis Spasticity Dysphagia Hepatocellular necrosis 3-Methylglutaconic aciduria Abnormality of extrapyramidal motor function Ketonuria Renal tubular dysfunction Progressive spasticity Abnormality of mitochondrial metabolism Truncal ataxia Lower limb spasticity Febrile seizures Developmental regression Sepsis Dyskinesia Inability to walk Abnormality of skin pigmentation Paraplegia Spastic paraplegia Abnormal conjugate eye movement Abnormality of eye movement Periportal fibrosis Patent foramen ovale Increased circulating renin level Hypocalciuria Hypokalemic metabolic alkalosis Chronic axonal neuropathy Renal potassium wasting Peripheral hypomyelination Salt craving Renal sodium wasting Intrauterine growth retardation Patent ductus arteriosus Neonatal hypotonia Decreased fetal movement Severe muscular hypotonia Apathy Abnormality of the mitochondrion Decreased activity of mitochondrial complex I Concentric hypertrophic cardiomyopathy Decreased activity of mitochondrial complex III Decreased activity of mitochondrial complex IV Diarrhea Behavioral abnormality Depressivity Arrhythmia Arthralgia Hepatosplenomegaly Anxiety Irritability Paralysis Pruritus Abnormality of the renal tubule Metabolic alkalosis Paresthesia Delayed speech and language development Hypothyroidism Limb muscle weakness Lower limb muscle weakness Astigmatism Oligohydramnios Cardiomegaly Nephrotic syndrome Ventricular hypertrophy Left ventricular hypertrophy Amblyopia Exercise intolerance Congenital nephrotic syndrome Short stature Gait ataxia Alkalosis Proteinuria Intellectual disability, moderate Generalized tonic-clonic seizures Postural instability Intention tremor CNS hypomyelination Hypokalemia Dysdiadochokinesis Polydipsia Polyuria Glycosuria Hyperaldosteronism Hypomagnesemia Renal salt wasting Confusion Tachycardia Micronodular cirrhosis Cerebral atrophy Ptosis Retinal degeneration Progressive microcephaly Bradycardia Increased body weight Progressive hearing impairment Athetosis Hyperglycemia Muscle fibrillation Poor eye contact Central apnea Vegetative state Hyperreflexia Thrombocytopenia Pallor Abnormality of the nervous system Cirrhosis Ascites Cholestasis Hyperbilirubinemia Aminoaciduria Hypoalbuminemia Portal hypertension Mitochondrial myopathy Severe failure to thrive Hypothermia Episodic vomiting Decreased activity of mitochondrial respiratory chain Generalized aminoaciduria Severe global developmental delay Apnea Hemolytic anemia Auditory hallucinations Abnormal blistering of the skin Psychosis Cutaneous photosensitivity Hypertrichosis Thin skin Hallucinations Hypermelanotic macule Orthostatic hypotension Prolonged neonatal jaundice Fragile skin Insomnia Visual hallucinations Ileus Paranoia Abnormality of the eye Delirium Congenital hemolytic anemia Compensated hemolytic anemia Respiratory paralysis Abdominal colic Red urine Acute episodes of neuropathic symptoms Strabismus Skeletal muscle atrophy Hypoplasia of the corpus callosum Intellectual disability, severe Agenesis of corpus callosum Cerebral cortical atrophy Muscular hypotonia of the trunk 3-hydroxydicarboxylic aciduria



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