Feeding difficulties, and Lactic acidosis

Diseases related with Feeding difficulties and Lactic acidosis

In the following list you will find some of the most common rare diseases related to Feeding difficulties 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

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Failure to thrive
  • Feeding difficulties
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19; COXPD19

Other less relevant matches:

Related symptoms:

  • Abnormal facial shape
  • Cognitive impairment
  • Feeding difficulties
  • Epicanthus
  • Vomiting


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5; MC3DN5

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Failure to thrive
  • Feeding difficulties
  • Cardiomyopathy


SOURCES: OMIM MENDELIAN

More info about SUDDEN CARDIAC FAILURE, INFANTILE; SCFI

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

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

Malonic aciduria is a metabolic disorder caused by deficiency of malonyl-CoA decarboxylase (MCD).

MALONIC ACIDURIA Is also known as malonyl-coa decarboxylase deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Failure to thrive


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about MALONIC ACIDURIA

Maternal riboflavin deficiency is a rare, genetic disorder of metabolite absorption or transport characterized by persistently decreased riboflavin serum levels due to a primary genetic defect in the mother and which leads to clinical and biochemical findings consistent with a secondary, life-threatening, transient multiple acyl-CoA dehydrogenase deficiency (MADD) in the newborn. The mother usually presents hyperemesis gravidarum in the absence of other features of riboflavin deficiency, such as skin lesions, jaundice, pruritus, sore mucous membranes, visual disturbances.

Related symptoms:

  • Generalized hypotonia
  • Vomiting
  • Acidosis
  • Photophobia
  • Hypoglycemia


SOURCES: ORPHANET OMIM MENDELIAN

More info about MATERNAL RIBOFLAVIN DEFICIENCY

Top 5 symptoms//phenotypes associated to Feeding difficulties and Lactic acidosis

Symptoms // Phenotype % cases
Acidosis Very Common - Between 80% and 100% cases
Generalized hypotonia Common - Between 50% and 80% cases
Metabolic acidosis Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Hypoglycemia Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Feeding difficulties and Lactic acidosis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Increased serum lactate Vomiting Seizures Failure to thrive Ketosis Cardiomyopathy Lethargy Hypertrophic cardiomyopathy

Rare Symptoms - Less than 30% cases

Tachypnea Hyperammonemia Poor suck Elevated hepatic transaminase Pachygyria Arrhythmia Congestive heart failure Severe lactic acidosis Cognitive impairment Growth delay Aciduria Recurrent hypoglycemia Pulmonary arterial hypertension Peripheral demyelination Irritability Loss of consciousness Decreased activity of the pyruvate dehydrogenase complex Respiratory failure Ketoacidosis Hyperventilation Hypertension Muscle weakness Episodic ketoacidosis Methylmalonic aciduria Ketonuria Decreased activity of mitochondrial respiratory chain Intellectual disability Short stature Chronic constipation Hyperemesis gravidarum Elevated plasma acylcarnitine levels Dicarboxylic aciduria Hypothermia Inflammatory abnormality of the skin Photophobia Episodic vomiting Poor appetite Muscular hypotonia Recurrent urinary tract infections Heterotopia Febrile seizures Abdominal pain Constipation Diarrhea Pain Coma Ventriculomegaly Attention deficit hyperactivity disorder Abnormal facial shape Increased serum pyruvate Abnormality of coagulation Abnormality of mitochondrial metabolism Decreased liver function Abnormality of the liver Epicanthus Hepatic steatosis Dilated cardiomyopathy Neonatal hypotonia Gastroesophageal reflux Respiratory distress Hepatomegaly Feeding difficulties in infancy Intrauterine growth retardation Visual impairment Myopathy Otitis media Hyperactivity Retinopathy Diabetes mellitus Recurrent infections Leukodystrophy Progressive neurologic deterioration Pigmentary retinopathy Delayed myelination Developmental regression Bradycardia Elevated serum creatine phosphokinase Hyperreflexia Spasticity Myocardial fibrosis Myocarditis Nemaline bodies Cardiac arrest Vitamin B2 deficiency


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