Intellectual disability, severe, and Metabolic acidosis

Diseases related with Intellectual disability, severe and Metabolic acidosis

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

Top matches:

Combined oxidative phosphorylation defect type 24 is a rare mitochondrial oxidative phosphorylation disorder characterized by variable phenotype, including developmental delay with psychomotor regression, intellectual disability, epilepsy, Leigh syndrome, non-syndromic hearing loss, visual impairment and severe myopathy. Decreased activity of mitochondrial respiratory complexes and lactic acidosis are common findings, and diffuse cerebral atrophy may be associated.

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 24 Is also known as coxpd24

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 24

D-glyceric aciduria is a metabolic disorder characterized by D-glyceric acid excretion. It has been described in several patients. Clinical findings include progressive neurological impairment, hypotonia, seizures, failure to thrive and metabolic acidosis. Some patients had hyperglycinemia secondary to the organic acidemia. However, some of the reported patients were asymptomatic. D-glyceric aciduria is caused by D-glycerate kinase deficiency. The GLYCTK gene has been mapped to 3p21.

D-GLYCERIC ACIDURIA Is also known as d-glyceric acidemia|d-glycerate kinase deficiency|glycerate kinase deficiency

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about D-GLYCERIC ACIDURIA

Fatal infantile lactic acidosis with methylmalonic aciduria is a rare neurometabolic disease characterized by infantile onset of severe encephalomyopathy, lactic acidosis and elevated methylmalonic acid urinary excretion. Clinically it manifests with severe psychomotor delay, hypotonia, failure to thrive, feeding difficulties and dystonia. Epilepsy and multiple congenital anomalies may be associated.

FATAL INFANTILE LACTIC ACIDOSIS WITH METHYLMALONIC ACIDURIA Is also known as lactic acidosis, fatal infantile, formerly

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about FATAL INFANTILE LACTIC ACIDOSIS WITH METHYLMALONIC ACIDURIA

Other less relevant matches:

Phosphoenolpyruvate carboxykinase (PEPCK) deficiency is a gluconeogenesis disorder that results from impairment in the enzyme PEPCK, and comprising cytosolic (PEPCK1) and mitochondrial (PEPCK2) forms of enzyme deficiency. Onset of symptoms is neonatal or a few months after birth and includes hypoglycemia associated with acute episodes of severe lactic acidosis, progressive neurological deterioration, severe liver failure, renal tubular acidosis and Fanconi syndrome. Patients also present progressive multisystem damage with failure to thrive, muscular weakness and hypotonia, developmental delay with seizures, spasticity, lethargy, microcephaly and cardiomyopathy. To date, there is no conclusive evidence of the existence of an isolated form of this disorder.

PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY Is also known as pepck deficiency|pc deficiency|leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency|ataxia with lactic acidosis ii|leigh syndrome due to pyruvate carboxylase deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY

OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3; OPTB3 Is also known as carbonic anhydrase ii deficiency|guibaud-vainsel syndrome|marble brain disease|osteopetrosis with renal tubular acidosis

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Growth delay
  • Muscle weakness


SOURCES: MESH OMIM MENDELIAN

More info about OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3; OPTB3

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

Genetic defects in the pyruvate dehydrogenase complex are one of the most common causes of primary lactic acidosis in children. Most cases are caused by mutation in the E1-alpha subunit gene on the X chromosome. X-linked PDH deficiency is one of the few X-linked diseases in which a high proportion of heterozygous females manifest severe symptoms. The clinical spectrum of PDH deficiency is broad, ranging from fatal lactic acidosis in the newborn to chronic neurologic dysfunction with structural abnormalities in the central nervous system without systemic acidosis (Robinson et al., 1987; Brown et al., 1994). Genetic Heterogeneity of Pyruvate Dehydrogenase Complex DeficiencyPDH deficiency can also be caused by mutation in other subunits of the PDH complex, including a form (PDHXD ) caused by mutation in the component X gene (PDHX ) on chromosome 11p13; a form (PDHBD ) caused by mutation in the PDHB gene (OMIM ) on chromosome 3p14; a form (PDHDD ) caused by mutation in the DLAT gene (OMIM ) on chromosome 11q23; a form (PDHPD ) caused by mutation in the PDP1 gene (OMIM ) on chromosome 8q22; and a form (PDHLD ) caused by mutation in the LIAS gene (OMIM ) on chromosome 4p14.

PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY; PDHAD Is also known as ataxia, intermittent, with pyruvate dehydrogenase deficiency|pyruvate decarboxylase deficiency|pdh deficiency|ataxia with lactic acidosis i|ataxia, intermittent, with abnormal pyruvate metabolism|pyruvate dehydrogenase complex deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY; PDHAD

Lysinuric protein intolerance (LPI) is a very rare inherited multisystem condition caused by distrubance in amino acid metabolism.

LYSINURIC PROTEIN INTOLERANCE Is also known as lpi|hyperdibasic aminoaciduria type 2|dibasic amino aciduria ii

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LYSINURIC PROTEIN INTOLERANCE

Combined methylmalonic aciduria (MMA) and homocystinuria is a genetically heterogeneous disorder of cobalamin (cbl; vitamin B12) metabolism. The defect causes decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase (MUT ) and methyltetrahydrofolate:homocysteine methyltransferase, also known as methionine synthase (MTR ). Different forms of the disorder have been classified according to complementation groups of cells in vitro: cblC, cblD (OMIM ), cblF (OMIM ), and cblJ (OMIM ).Isolated methylmalonic acidurias have also been classified by complementation groups: MMA 'mut' (OMIM ) is caused by mutation in the MUT gene on chromosome 6p21; MMA cblA (OMIM ) is caused by mutation in the MMAA gene (OMIM ) on 4q31; and MMA cblB (OMIM ) is caused by mutation in the MMAB gene (OMIM ) on 12q24.Methylmalonic aciduria and homocystinuria, cblC type, is the most common inborn error of vitamin B12 (cobalamin) metabolism, with about 250 known cases (Lerner-Ellis et al., 2006). Affected individuals may have developmental, hematologic, neurologic, metabolic, ophthalmologic, and dermatologic clinical findings. Although considered a disease of infancy or childhood, some individuals develop symptoms in adulthood (Rosenblatt et al., 1997).

METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC Is also known as vitamin b12 metabolic defect with combined deficiency of methylmalonyl-coa mutase and homocysteine:methyltetrahydrofolate methyltransferase|methylmalonic aciduria and homocystinuria, vitamin b12-responsive|methylmalonic acidemia and homocystinuria, cblc t

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Hyperreflexia
  • Intellectual disability, severe


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4; MC3DN4

Top 5 symptoms//phenotypes associated to Intellectual disability, severe and Metabolic acidosis

Symptoms // Phenotype % cases
Acidosis Very Common - Between 80% and 100% cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Generalized hypotonia Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Intellectual disability, severe and Metabolic acidosis. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Muscular hypotonia

Uncommon Symptoms - Between 30% and 50% cases

Failure to thrive Microcephaly Increased serum lactate Cerebral cortical atrophy Growth delay Encephalopathy Ataxia Muscle weakness Muscular hypotonia of the trunk Skeletal muscle atrophy Cerebral atrophy Feeding difficulties Aciduria Hearing impairment Hypoglycemia Dystonia Renal insufficiency Lactic acidosis Severe global developmental delay Hyperammonemia Athetosis Anemia Brain atrophy Agenesis of corpus callosum Nystagmus Spasticity Dysarthria Respiratory insufficiency

Rare Symptoms - Less than 30% cases

Congenital lactic acidosis Necrotizing encephalopathy Visual loss Respiratory failure Abnormality of the nervous system Mental deterioration Visual impairment Unsteady gait Thrombocytopenia Strabismus Muscle fibrillation Severe lactic acidosis Malabsorption Methylmalonic aciduria Coma Lethargy Proximal renal tubular acidosis Abnormality of extrapyramidal motor function Motor delay Dementia Congestive heart failure Cognitive impairment Abnormal facial shape Short stature Retinal degeneration Pneumonia Tachypnea Abnormality of eye movement Areflexia Renal tubular acidosis Hyperalaninemia Vomiting Hepatomegaly Cerebellar atrophy Optic atrophy Opisthotonus CNS hypomyelination Sensorineural hearing impairment Hyperreflexia Respiratory distress Progressive microcephaly Generalized-onset seizure Spastic tetraplegia Tetraplegia Ptosis Aminoaciduria Poor eye contact Oroticaciduria Depressivity Thyroglossal cyst Hydrocephalus Micronodular cirrhosis Hyperlysinuria Cystathioninuria Psychotic episodes Alveolar proteinosis Cystathioninemia Pulmonary hemorrhage Hypomethioninemia Protein avoidance Tremor Diffuse hepatic steatosis Decreased methylmalonyl-CoA mutase activity Hemophagocytosis Ornithinuria Hypertension Argininuria Asterixis Cataract Low-set ears Apathy Abnormality of the coagulation cascade Increased serum ferritin Postural instability Diarrhea Splenomegaly Delayed skeletal maturation Osteoporosis Osteopenia Jaundice Sparse hair Nausea and vomiting Stage 5 chronic kidney disease Nausea Cirrhosis Recurrent fractures Abnormal bleeding Glomerulopathy Fine hair Pancreatitis Leukopenia Inability to walk Cutis laxa Absent speech Hyperextensible skin Systemic lupus erythematosus Glomerulonephritis Weight loss Malnutrition Truncal obesity Vitamin B12 deficiency Arthritis Gait ataxia Pulmonary arterial hypertension Chronic hemolytic anemia Methylmalonic acidemia Memory impairment Basal ganglia cysts Pigmentary retinopathy Atrophy of the spinal cord Pancytopenia Psychosis Hemolytic-uremic syndrome Right ventricular failure Gastritis Broad-based gait Neutropenia Recurrent urinary tract infections Anorexia Myelopathy Homocystinuria Cor pulmonale Megaloblastic anemia Abnormality of retinal pigmentation Atherosclerosis Slurred speech Thromboembolism Disproportionate tall stature Hemiplegia Urinary incontinence Abnormality of macular pigmentation Reduced visual acuity Decreased methionine synthase activity High forehead Macrotia Difficulty walking Ectopia lentis Proteinuria Feeding difficulties in infancy Retinopathy Hip dislocation Congenital cataract Lower limb muscle weakness Smooth philtrum Decreased adenosylcobalamin Delirium Confusion Hyperhomocystinemia Paresthesia Abnormality of skin pigmentation Long face Decreased methylcobalamin Joint hypermobility Hemolytic anemia Nephropathy Hematuria Hepatic steatosis Urogenital fistula Apneic episodes precipitated by illness, fatigue, stress Progressive hearing impairment Chronic lactic acidosis Intermittent hyperpnea at rest Nonketotic hyperglycinemia Cardiomyopathy Obesity Hyperhidrosis Abnormality of the skin Progressive neurologic deterioration Shock Hypophosphatemia Poor motor coordination Episodic metabolic acidosis Renal aminoaciduria Macrocephaly Hyperglycinemia Leukodystrophy Clonus Ketoacidosis Periventricular leukomalacia Dysgraphia Increased serum pyruvate Cystinuria Increased head circumference Periventricular cysts Chronic metabolic acidosis Neuronal loss in the cerebral cortex Abnormality of the dentition Glutaric aciduria Severe failure to thrive Dental malocclusion Ragged-red muscle fibers Blindness Myopathy Intellectual disability, mild Elevated serum creatine phosphokinase Proximal muscle weakness Facial palsy Neurodegeneration Gliosis Neuronal loss in central nervous system Tetraparesis Cerebral visual impairment Spastic tetraparesis Glomerulosclerosis Epileptic spasms Focal segmental glomerulosclerosis Mildly elevated creatine phosphokinase Metabolic alkalosis Delayed speech and language development Hypertonia Myoclonus Neonatal hypotonia Autistic behavior Delayed myelination Hypsarrhythmia Optic nerve hypoplasia Neonatal respiratory distress Hepatosplenomegaly Cerebral calcification Decreased activity of the pyruvate dehydrogenase complex Infantile spasms Long philtrum Dilatation Hyperactivity Paralysis Small for gestational age Ophthalmoplegia Choreoathetosis Clumsiness Heterotopia Global brain atrophy Partial agenesis of the corpus callosum Central hypotonia Ventriculomegaly Hyperventilation Ketosis Mild global developmental delay Mild microcephaly Preeclampsia Short attention span Increased CSF lactate Breech presentation Episodic ataxia Broad philtrum Olivopontocerebellar atrophy Flared nostrils Anteverted nares Frontal bossing Abnormal lung morphology Peripheral neuropathy Restrictive ventilatory defect Basal ganglia calcification Osteomalacia Poor appetite Osteopetrosis Extramedullary hematopoiesis Cranial hyperostosis Distal renal tubular acidosis Diaphyseal sclerosis Periodic hypokalemic paresis Elevated serum acid phosphatase Optic nerve compression Hypoplasia of the corpus callosum Wide nasal bridge Edema Hyporeflexia Abnormality of the eye Apnea Pallor Retinal dystrophy Bradycardia Increased body weight Hyperglycemia Central apnea Demyelinating peripheral neuropathy Vegetative state Restlessness


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