Failure to thrive, and Increased serum lactate

Diseases related with Failure to thrive and Increased serum lactate

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

Top matches:

Combined oxidative phosphorylation defect type 9 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by initially normal growth and development followed by the infantile-onset of failure to thrive, psychomotor delay, poor feeding, dyspnea, severe hypertrophic cardiomyopathy and hepatomegaly. Laboratory studies report increased plasma lactate and alanine, abnormal liver enzymes and decreased activity of mitochondrial respiratory chain complexes I, III, IV, and V.

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 9 Is also known as coxpd9

Related symptoms:

  • Global developmental delay
  • Failure to thrive
  • Feeding difficulties
  • Hepatomegaly
  • Cardiomyopathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 9

Combined oxidative phosphorylation defect type 8 is a mitochondrial disease due to a defect in mitochondrial protein synthesis resulting in deficiency of respiratory chain complexes I, III and IV in the cardiac and skeletal muscle and brain characterized by severe hypertrophic cardiomyopathy, pulmonary hypoplasia, generalized muscle weakness and neurological involvement.

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 8 Is also known as cardiomyopathy, hypertrophic mitochondrial, fatal infantile|coxpd8

Related symptoms:

  • Failure to thrive
  • Muscle weakness
  • Motor delay
  • Cardiomyopathy
  • Congestive heart failure


SOURCES: ORPHANET OMIM MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 8

Cardiomyopathy-hypotonia-lactic acidosis syndrome is characterised by hypertrophic cardiomyopathy, muscular hypotonia and the presence of lactic acidosis at birth. It has been described in two sisters (both of whom died within the first year of life) from a nonconsanguineous Turkish family. The syndrome is caused by a homozygous point mutation in the exon 3A of the SLC25A3 gene encoding a mitochondrial membrane transporter.

CARDIOMYOPATHY-HYPOTONIA-LACTIC ACIDOSIS SYNDROME Is also known as mpcd

Related symptoms:

  • Generalized hypotonia
  • Failure to thrive
  • Muscular hypotonia
  • Respiratory insufficiency
  • Respiratory distress


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about CARDIOMYOPATHY-HYPOTONIA-LACTIC ACIDOSIS SYNDROME

Other less relevant matches:

COXPD34 is an autosomal recessive disorder resulting from a defect in mitochondrial function. The phenotype is variable, but may include congenital sensorineural deafness, increased serum lactate, and hepatic and renal dysfunction. Neurologic function is relatively preserved (summary by Menezes et al., 2015).For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (OMIM ).

SYNDROMIC SENSORINEURAL DEAFNESS DUE TO COMBINED OXIDATIVE PHOSPHORYLATION DEFECT Is also known as syndromic sensorineural deafness due to coxpd|syndromic sensorineural hearing loss due to coxpd

Related symptoms:

  • Hearing impairment
  • Failure to thrive
  • Sensorineural hearing impairment
  • Hepatomegaly
  • Vomiting


SOURCES: ORPHANET OMIM MENDELIAN

More info about SYNDROMIC SENSORINEURAL DEAFNESS DUE TO COMBINED OXIDATIVE PHOSPHORYLATION 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

Glycogen synthetase deficiency, or glycogen storage disease (GSD) type 0, is a genetically inherited anomaly of glycogen metabolism and a form of GSD characterized by fasting hypoglycemia. This is not a glycogenosis, strictly speaking, as the enzyme deficiency decreases glycogen reserves.

GLYCOGEN STORAGE DISEASE DUE TO HEPATIC GLYCOGEN SYNTHASE DEFICIENCY Is also known as gsd 0a|gsd type 0a|glycogen storage disease type 0a|glycogen storage disease due to liver glycogen synthase deficiency|glycogenosis type 0a|hypoglycemia with deficiency of glycogen synthetase in the liver|gsd due to hepatic glycogen synthase deficiency|li

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Failure to thrive
  • Fatigue


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO HEPATIC GLYCOGEN SYNTHASE DEFICIENCY

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 30 Is also known as coxpd30

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Failure to thrive
  • Feeding difficulties
  • Respiratory failure


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 30

MGCA9 is an autosomal recessive disorder characterized by early-onset seizures, severely delayed psychomotor development and intellectual disability. Patients have hypotonia or spasticity, and laboratory investigations show increased serum lactate and 3-methylglutaconic aciduria, suggestive of a mitochondrial defect (summary by Shahrour et al., 2017).For a phenotypic description and a discussion of genetic heterogeneity of 3-methylglutaconic aciduria, see MGCA type I (OMIM ).

3-METHYLGLUTACONIC ACIDURIA TYPE 9 Is also known as 3-methylglutaconic aciduria-epilepsy-spasticity-severe intellectual disability syndrome|mga9

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about 3-METHYLGLUTACONIC ACIDURIA TYPE 9

Combined oxidative phosphorylation defect type 17 is a rare, genetic, mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by infantile-onset of severe hypertrophic cardiomyopathy (that occasionally progresses to dilated cardiomyopathy) associated with failure to thrive, global development delay, muscular hypotonia, elevated serum lactate and complex I deficiency in skeletal muscle biopsy. Intellectual disability, pericardial effusion and a mild cardiac phenotype have been also reported.

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 17 Is also known as coxpd17

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 17

Multiple mitochondrial dysfunctions syndrome-6 is an autosomal recessive severe neurodegenerative disorder with onset in early childhood. Affected individuals may have initial normal development, but show neurologic regression in the first year of life. They have hypotonia, inability to walk, poor speech, intellectual disability, and motor abnormalities, such as ataxia, dystonia, and spasticity. Some patients may die in childhood. Laboratory evidence indicates that the disorder results from mitochondrial dysfunction (summary by Vogtle et al., 2018).For a general description and a discussion of genetic heterogeneity of multiple mitochondrial dysfunctions syndrome, see MMDS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6; MMDS6

Top 5 symptoms//phenotypes associated to Failure to thrive and Increased serum lactate

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Lactic acidosis Common - Between 50% and 80% cases
Acidosis Uncommon - Between 30% and 50% cases
Feeding difficulties Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Cardiomyopathy Hypertrophic cardiomyopathy Metabolic acidosis Seizures Abnormality of mitochondrial metabolism Hypoglycemia Hearing impairment Encephalopathy Elevated hepatic transaminase Hyperalaninemia Muscle weakness Congestive heart failure

Rare Symptoms - Less than 30% cases

Decreased liver function Epileptic encephalopathy Sensorineural hearing impairment Irritability Hepatomegaly Absent speech Respiratory failure Abnormality of the liver Muscular hypotonia Optic atrophy Spasticity Intellectual disability Lethargy Microcephaly 3-Methylglutaconic aciduria Delayed ability to walk Growth delay Spastic tetraplegia Leukoencephalopathy Clonus Hypsarrhythmia Brain atrophy Abnormality of the cerebral white matter Cerebral atrophy Hypertonia Intellectual disability, severe Increased CSF lactate Ragged-red muscle fibers Aciduria Dilated cardiomyopathy Intrauterine growth retardation Cerebellar atrophy Optic disc pallor Postnatal microcephaly Tetraplegia Inability to walk Dysmetria Poor speech Developmental regression Visual loss Dystonia Ataxia Dysphagia Hyperglutaminemia Decreased activity of mitochondrial complex IV Myocardial necrosis Abnormal mitochondrial morphology Ventricular hypertrophy Oroticaciduria Decreased activity of mitochondrial complex I Cytochrome C oxidase-negative muscle fibers Abnormality of the basal ganglia Infantile muscular hypotonia Left ventricular hypertrophy Hyperglycemia Polymicrogyria Cyanosis Hepatic steatosis Hepatic failure Hypogonadism Renal insufficiency Vomiting Low-output congestive heart failure Abnormal mitochondrial shape Abnormality of the mitochondrion Severe muscular hypotonia Myopathy Hypergonadotropic hypogonadism Respiratory distress Respiratory insufficiency Staring gaze Histiocytoid cardiomyopathy Generalized muscle weakness Pulmonary hypoplasia EEG abnormality Motor delay Dyspnea Pancytopenia Congenital sensorineural hearing impairment Gastroesophageal reflux Glycosuria Elevated plasma branched chain amino acids Ketotic hypoglycemia Postprandial hyperglycemia Fasting hypoglycemia Abnormality of the gastrointestinal tract Ketonuria Ketosis Neonatal hypoglycemia Drowsiness Hyperlipidemia Primary adrenal insufficiency Confusion Pallor Fatigue Short stature Decreased activity of the pyruvate dehydrogenase complex Decreased activity of mitochondrial respiratory chain Recurrent hypoglycemia Pulmonary arterial hypertension Peripheral demyelination Hypertension Poor head control


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