Global developmental delay, and Lactic acidosis

Diseases related with Global developmental delay and Lactic acidosis

In the following list you will find some of the most common rare diseases related to Global developmental delay and Lactic acidosis that can help you solving undiagnosed cases.

Top matches:

Combined oxidative phosphorylation deficiency-23 is an autosomal recessive disorder characterized by early childhood onset of hypertrophic cardiomyopathy and/or neurologic symptoms, including hypotonia and delayed psychomotor development. Laboratory investigations are consistent with a defect in mitochondrial function resulting in lactic acidosis, impaired activities of respiratory complexes I and IV, and defective translation of mitochondrial proteins. Brain imaging shows abnormal lesions in the basal ganglia, thalamus, and brainstem. The severity of the disorder is variable, ranging from death in early infancy to survival into the second decade (summary by Kopajtich et al., 2014).For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (OMIM ).

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 23 Is also known as coxpd23

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 23

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Growth delay
  • Feeding difficulties


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 9; MC3DN9

Carbonic anhydrase VA deficiency is an autosomal recessive inborn error of metabolism characterized clinically by acute onset of encephalopathy in infancy or early childhood. Biochemical evaluation shows multiple metabolic abnormalities, including metabolic acidosis and respiratory alkalosis. Other abnormalities include hypoglycemia, increased serum lactate and alanine, and evidence of impaired provision of bicarbonate to essential mitochondrial enzymes. Apart from episodic acute events in early childhood, the disorder shows a relatively benign course. Treatment with carglumic acid can result in neurologic improvement (summary by van Karnebeek et al., 2014).

HYPERAMMONEMIC ENCEPHALOPATHY DUE TO CARBONIC ANHYDRASE VA DEFICIENCY Is also known as ca-va deficiency

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Delayed speech and language development
  • Encephalopathy
  • Acidosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYPERAMMONEMIC ENCEPHALOPATHY DUE TO CARBONIC ANHYDRASE VA DEFICIENCY

Other less relevant matches:

Pyruvate dehydrogenase phosphatase deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by lactic acidemia in the neonatal period.

PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY Is also known as lactic acidemia with pyruvate dehydrogenase phosphatase deficiency|pdh phosphatase deficiency

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY

Medium match OXOGLUTARIC ACIDURIA

Oxoglutaric aciduria is a very rare tricarboxylic acid cycle disorder (see this term), resulting from a deficiency in alpha-ketoglutarate dehydrogenase (one of the three subunits of the alpha-ketoglutarate dehydrogenase complex), that most often presents in the neonatal period with hypotonia, severe encephalopathy, extrapyramidal signs, pyramidal tract dysfunction and seizures and that frequently results in death in early childhood. Metabolic acidosis, elevated lactate and glutamate levels and variable degrees of glutaric aciduria are noted. Sudden death, myocardiopathy, and hepatic disorders have also been reported in some cases.

OXOGLUTARIC ACIDURIA Is also known as 2-ketoglutarate dehydrogenase deficiency|alpha-kgd deficiency|oxoglutaric aciduria|alpha-ketoglutarate dehydrogenase deficiency

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Ataxia
  • Muscular hypotonia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about OXOGLUTARIC ACIDURIA

MMDS5 is an autosomal recessive disorder characterized mainly by progressive neurologic deterioration beginning in early infancy. Affected individuals have essentially no psychomotor development and have early-onset seizures with neurologic decline and spasticity. Brain imaging shows severe leukodystrophy with evidence of dys- or delayed myelination. Death usually occurs in early childhood (summary by Shukla et al., 2017).For a general description and a discussion of genetic heterogeneity of multiple mitochondrial dysfunctions syndrome, see MMDS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Spasticity
  • Feeding difficulties
  • Hyperreflexia


SOURCES: OMIM MENDELIAN

More info about MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5; MMDS5

Succinyl-CoA:3-ketoacid CoA transferase deficiency (SCOTD) is a defect in ketone body utilization characterized by severe, potentially fatal intermittent episodes of ketoacidosis.

SUCCINYL-COA:3-KETOACID COA TRANSFERASE DEFICIENCY Is also known as scot deficiency|oxct1 deficiency|succinyl-coa:acetoacetate transferase deficiency|succinyl-coa acetoacetate transferase deficiency|succinyl-coa:3-ketoacid coa-transferase deficiency|succinyl-coa:3-oxoacid coa transferase deficiency|ketoacidosis due to sco

Related symptoms:

  • Global developmental delay
  • Feeding difficulties
  • Vomiting
  • Recurrent infections
  • Diabetes mellitus


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about SUCCINYL-COA:3-KETOACID COA TRANSFERASE DEFICIENCY

Glycogen storage disease (GSD) due to liver phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism characterized by hepatomegaly, growth retardation, and mild delay in motor development during childhood.

GLYCOGEN STORAGE DISEASE DUE TO LIVER PHOSPHORYLASE KINASE DEFICIENCY Is also known as gsd type ixc|gsd due to liver phosphorylase kinase deficiency|xlg|glycogen storage disease type 9c|glycogen storage disease type 9a|gsd ixc|gsd type 9c|glycogen storage disease type ixc|glycogenosis due to liver phosphorylase kinase deficiency|glycogenosi

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO LIVER PHOSPHORYLASE KINASE DEFICIENCY

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

Multiple mitochondrial dysfunctions syndrome is a severe autosomal recessive disorder of systemic energy metabolism, resulting in weakness, respiratory failure, lack of neurologic development, lactic acidosis, and early death (summary by Seyda et al., 2001). Genetic Heterogeneity of Multiple Mitochondrial Dysfunctions SyndromeSee also MMDS2 (OMIM ), caused by mutation in the BOLA3 gene (OMIM ) on chromosome 2p13; MMDS3 (OMIM ), caused by mutation in the IBA57 gene (OMIM ) on chromosome 1q42; MMDS4 (OMIM ), caused by mutation in the ISCA2 gene (OMIM ) on chromosome 14q24; MMDS5 (OMIM ), caused by mutation in the ISCA1 gene (OMIM ) on chromosome 9q21; and MMDS6 (OMIM ), caused by mutation in the PMPCB gene (OMIM ) on chromosome 7q22.

MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1; MMDS1 Is also known as mmds

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness
  • Feeding difficulties


SOURCES: OMIM MENDELIAN

More info about MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1; MMDS1

Top 5 symptoms//phenotypes associated to Global developmental delay and Lactic acidosis

Symptoms // Phenotype % cases
Acidosis Very Common - Between 80% and 100% cases
Generalized hypotonia Common - Between 50% and 80% cases
Increased serum lactate Common - Between 50% and 80% cases
Hypoglycemia Common - Between 50% and 80% cases
Feeding difficulties Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Global developmental delay and Lactic acidosis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Seizures Metabolic acidosis Intellectual disability Muscle weakness Lethargy Muscular hypotonia of the trunk Muscular hypotonia

Rare Symptoms - Less than 30% cases

Short stature Hypertension Respiratory failure Fatigue Recurrent hypoglycemia Decreased activity of the pyruvate dehydrogenase complex Ketonuria Ketoacidosis Tachypnea Failure to thrive Congestive heart failure Spasticity Ketosis Severe lactic acidosis Growth delay Edema Hepatic fibrosis Hypertriglyceridemia Decreased liver function Abdominal distention Cirrhosis Hepatomegaly Elevated hepatic transaminase Splenomegaly Peripheral demyelination Motor delay Pulmonary arterial hypertension Episodic ketoacidosis Methylmalonic aciduria Hyperventilation Hyperlipidemia Increased serum pyruvate Hypercholesterolemia Decreased fetal movement Caesarian section Poor appetite Abnormality of mitochondrial metabolism Decreased activity of mitochondrial complex IV Irritability Ragged-red muscle fibers Bradycardia Polyhydramnios Fasting hypoglycemia Abdominal pain Aciduria Respiratory insufficiency Pain Hypoglycemic seizures Decreased activity of mitochondrial complex I Portal fibrosis Bile duct proliferation Loss of consciousness Retinopathy Coma Hyperammonemia Gait ataxia Respiratory distress Dysphagia Nystagmus Respiratory alkalosis Acute encephalopathy Hyperalaninemia Alkalosis Encephalopathy Ataxia Delayed speech and language development Feeding difficulties in infancy Hypertrophic cardiomyopathy Arrhythmia Cardiomyopathy Intrauterine growth retardation Visual impairment Cognitive impairment Neonatal hypotonia Skeletal muscle atrophy Attention deficit hyperactivity disorder Delayed myelination Hyperactivity Diabetes mellitus Recurrent infections Vomiting Leukodystrophy Pachygyria Progressive neurologic deterioration Pigmentary retinopathy Developmental regression Hydrocephalus Elevated serum creatine phosphokinase Ventriculomegaly Hyperreflexia Abnormality of Krebs cycle metabolism Abnormal urine alpha-ketoglutarate concentration Congenital lactic acidosis Abnormal salivary gland morphology Abnormality of movement Hypertonia Decreased activity of mitochondrial respiratory chain


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