Hepatomegaly, and Encephalopathy

Diseases related with Hepatomegaly and Encephalopathy

In the following list you will find some of the most common rare diseases related to Hepatomegaly and Encephalopathy that can help you solving undiagnosed cases.

Top matches:

3-hydroxy-3-methylglutaryl-CoA synthase deficiency (HMG-CoA synthase deficiency) is a rare autosomal recessively inherited disorder of ketone body metabolism (see this term), reported in less than 20 patients to date, characterized clinically by episodes of decompensation (often associated with gastroenteritis or fasting) that present with vomiting, lethargy, hepatomegaly, non ketotic hypoglycemia and, in rare cases, coma. Patients are mostly asymptomatic between acute epidodes. HMG-CoA synthase deficiency requires an early diagnosis in order to avoid hypoglycemic crises that can lead to permanent brain damage or death.

3-HYDROXY-3-METHYLGLUTARYL-COA SYNTHASE DEFICIENCY Is also known as hmgcs2 deficiency|hmg-coa synthase deficiency|mitochondrial hmg-coa synthase deficiency

Related symptoms:

  • Seizures
  • Hepatomegaly
  • Vomiting
  • Diarrhea
  • Abnormality of metabolism/homeostasis


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about 3-HYDROXY-3-METHYLGLUTARYL-COA SYNTHASE DEFICIENCY

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

FAMILIAL APOLIPOPROTEIN C-II DEFICIENCY Is also known as apoc2 deficiency|hyperlipoproteinemia, type ib|familial apoc-ii deficiency|c-ii anapolipoproteinemia

Related symptoms:

  • Global developmental delay
  • Pain
  • Hepatomegaly
  • Macrocephaly
  • Splenomegaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about FAMILIAL APOLIPOPROTEIN C-II DEFICIENCY

Other less relevant matches:

Combined oxidative phosphorylation defect type 4 is a rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by a neonatal onset of severe metabolic acidosis and respiratory distress, persistent lactic acidosis with episodes of metabolic crises, developmental regression, microcephaly, abnormal gaze fixation and pursuit, axial hypotonia with limb spasticity and reduced spontaneous movements. Neuroimaging studies reveal polymicrogyria, white matter abnormalities and multiple cystic brain lesions, including basal ganglia, and cerebral atrophy. Decreased activity of complex I and IV have been determined in muscle biopsy.

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 4 Is also known as coxpd4

Related symptoms:

  • Generalized hypotonia
  • Microcephaly
  • Growth delay
  • Nystagmus
  • Spasticity


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 4

The severe infantile form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the early-onset form of the disease.

CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, SEVERE INFANTILE FORM Is also known as cpt2, severe infantile form|cptii, severe infantile form|carnitine palmitoyltransferase ii deficiency with hypoketotic hypoglycemia|carnitine palmitoyl transferase deficiency type 2, hepatocardiomuscular form|cpt2, hepatocardiomuscular form|cptii, hepatoc

Related symptoms:

  • Seizures
  • Hepatomegaly
  • Fever
  • Respiratory distress
  • Cardiomyopathy


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, SEVERE INFANTILE FORM

Medium chain acyl-CoA dehydrogenase (MCAD) deficiency (MCADD) is an inborn error of mitochondrial fatty acid oxidation characterized by a rapidly progressive metabolic crisis, often presenting as hypoketotic hypoglycemia, lethargy, vomiting, seizures and coma, which can be fatal in the absence of emergency medical intervention.

MEDIUM CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY Is also known as medium chain acyl-coenzyme a dehydrogenase deficiency|mcadh deficiency|acadm deficiency|mcad deficiency|carnitine deficiency secondary to medium-chain acyl-coa dehydrogenase deficiency|mcadd

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Muscular hypotonia
  • Hepatomegaly


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MEDIUM CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY

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

Methylmalonic aciduria is a genetically heterogeneous disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism. Different forms of isolated methylmalonic aciduria have been classified according to complementation groups of cells in vitro. Patients with defects in the synthesis of AdoCbl are usually responsive to vitamin B12 therapy and are classified as 'cbl' type: these include cblB and cblA (OMIM ). The cblA type is caused by mutation in the MMAA gene (OMIM ). The 'mut' type (OMIM ) is caused by mutation in the MUT gene; in general, the mut form of MMA is unresponsive to vitamin B12 therapy.Combined methylmalonic aciduria and homocystinuria may be seen in complementation groups cblC (OMIM ), cblD (OMIM ), and cblF (OMIM ).

VITAMIN B12-RESPONSIVE METHYLMALONIC ACIDEMIA TYPE CBLB Is also known as vitamin b12-responsive methylmalonic aciduria, type cblb|methylmalonic acidemia, cblb type|methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cblb type

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about VITAMIN B12-RESPONSIVE METHYLMALONIC ACIDEMIA TYPE CBLB

Mitochondrial pyruvate carrier deficiency is an autosomal recessive metabolic disorder characterized by delayed psychomotor development and lactic acidosis with a normal lactate/pyruvate ratio resulting from impaired mitochondrial pyruvate oxidation (summary by Bricker et al., 2012).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Nystagmus


SOURCES: ORPHANET OMIM MENDELIAN

More info about MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY

Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (VLCADD) is an inherited disorder of mitochondrial long-chain fatty acid oxidation with a variable presentation including: cardiomyopathy, hypoketotic hypoglycemia, liver disease, exercise intolerance and rhabdomyolysis.

VERY LONG CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY Is also known as vlcadd|vlcad deficiency

Related symptoms:

  • Muscle weakness
  • Muscular hypotonia
  • Feeding difficulties
  • Hepatomegaly
  • Cardiomyopathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about VERY LONG CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY

Top 5 symptoms//phenotypes associated to Hepatomegaly and Encephalopathy

Symptoms // Phenotype % cases
Vomiting Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Hypoglycemia Uncommon - Between 30% and 50% cases
Metabolic acidosis Uncommon - Between 30% and 50% cases
Acidosis Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hepatomegaly and Encephalopathy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Respiratory distress Lethargy Hepatic failure Hyperammonemia Global developmental delay Increased serum lactate Hepatic steatosis Generalized hypotonia Coma Elevated hepatic transaminase Cardiomyopathy Dicarboxylic aciduria Myopathy Elevated serum creatine phosphokinase Aciduria Cardiomegaly Hypoketotic hypoglycemia Muscular hypotonia Lactic acidosis

Rare Symptoms - Less than 30% cases

Feeding difficulties Pancytopenia Arrhythmia Nystagmus Diarrhea Failure to thrive Peripheral neuropathy Ventricular hypertrophy Hypoglycemic coma Muscle weakness Microcephaly Decreased plasma carnitine Abnormality of the mitochondrion Respiratory arrest Dehydration Hepatocellular necrosis Intellectual disability Ataxia Anemia Congenital nephrotic syndrome Thrombocytopenia Skeletal myopathy Progressive external ophthalmoplegia External ophthalmoplegia Amblyopia Left ventricular hypertrophy Nephrotic syndrome Oligohydramnios Astigmatism Lower limb muscle weakness Limb muscle weakness Exercise intolerance Ketosis Feeding difficulties in infancy Progressive microcephaly Rhabdomyolysis Hepatic encephalopathy Infantile muscular hypotonia Tachypnea Cardiac arrest Progressive muscle weakness Sudden cardiac death Nephropathy Irritability Hypertrophic cardiomyopathy Myalgia Increased serum pyruvate Rotary nystagmus Organic aciduria Wide intermamillary distance Neutropenia Hyperglycinemia Abnormality of mitochondrial metabolism Myoglobinuria Ketonuria Exercise-induced myoglobinuria Methylmalonic aciduria Homocystinuria Abnormality of the liver Thin upper lip vermilion Methylmalonic acidemia Decreased adenosylcobalamin Decreased methylmalonyl-CoA mutase activity Epicanthus Long philtrum Babinski sign Ophthalmoplegia Nausea and vomiting Hypothyroidism Splenomegaly Epigastric pain Chronic pancreatitis Hyperlipoproteinemia Episodic abdominal pain Hypercholesterolemia Pancreatitis Hypertriglyceridemia Abnormality of the nervous system Hepatosplenomegaly Abdominal pain Cerebral atrophy Macrocephaly Lipemia retinalis Pain Primary adrenal insufficiency Congenital sensorineural hearing impairment Hypergonadotropic hypogonadism Decreased liver function Hypogonadism Renal insufficiency Sensorineural hearing impairment Hearing impairment Recurrent hypoglycemia Abnormality of metabolism/homeostasis Eruptive xanthomas Increased circulating chylomicron concentration Constipation Abnormality of brain morphology Fatigue Ptosis Medium chain dicarboxylic aciduria Hyperglycinuria Cerebral edema Hypoglycemic encephalopathy Macrovesicular hepatic steatosis Loss of consciousness Dilated cardiomyopathy Hyperhidrosis Fever Progressive encephalopathy Growth delay Opisthotonus Leukodystrophy Premature birth Polymicrogyria Developmental regression Muscular hypotonia of the trunk Neonatal hypotonia Respiratory failure Hypertonia Intrauterine growth retardation Spasticity Neonatal sepsis


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