Hepatomegaly, and Hypoglycemia

Diseases related with Hepatomegaly and Hypoglycemia

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

Top matches:

GLYCOGEN STORAGE DISEASE VI; GSD6 Is also known as phosphorylase deficiency glycogen-storage disease of liver|hers disease|gsd vi

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Growth delay
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE VI; GSD6

Glycogen storage disease type IX is a metabolic disorder resulting from a deficiency of hepatic phosphorylase kinase, a hexadecameric enzyme comprising 4 copies each of 4 unique subunits encoded by 4 different genes: alpha (PHKA2), beta (PHKB ), gamma (PHKG2 ), and delta (CALM1 ). Mutations within the PHKA2, PHKB, and PHKG2 genes result in GSD9A, GSD9B (OMIM ), and GSD9C (OMIM ), respectively. GSD IXa is an X-linked recessive disorder, whereas the others are autosomal recessive.GSD IXa has been further divided into types IXa1 (GSD9A1), with no PHK activity in liver or erythrocytes, and IXa2 (GSD9A2), with no PHK in liver, but normal activity in erythrocytes. The clinical presentation of both subtypes is the same, and both are caused by mutations in the PHKA2 gene. However, mutations that result in IXa2 are either missense or small in-frame deletions or insertions enabling residual enzyme expression in erythrocytes (Keating et al., 1985; Hendrickx et al., 1994; Beauchamp et al., 2007).See also X-linked muscle PHK deficiency (GSD9D ), caused by mutation in the gene encoding the muscle-specific alpha PHK subunit (PHKA1 ).

GLYCOGEN STORAGE DISEASE IXA1; GSD9A1 Is also known as glycogen storage disease viii, formerly|gsd8, formerly|gsd viii, formerly|liver glycogenosis, x-linked, type i|xlg1

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Growth delay
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE IXA1; GSD9A1

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

Other less relevant matches:

FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG; FRTS4 Is also known as frts4 with mody

Related symptoms:

  • Short stature
  • Hepatomegaly
  • Diabetes mellitus
  • Acidosis
  • Hypoglycemia


SOURCES: OMIM MENDELIAN

More info about FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG; FRTS4

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

Neonatal intrahepatic cholestasis due to citrin deficiency is a mild subtype of citrin deficiency (see this term) characterized clinically by low birth weight, failure to thrive, transient intrahepatic cholestasis, multiple aminoacidemia, galactosemia, hypoproteinemia, hepatomegaly, decreased coagulation factors, hemolytic anemia, variable but mostly mild liver dysfunction, and hypoglycemia.

NEONATAL INTRAHEPATIC CHOLESTASIS DUE TO CITRIN DEFICIENCY Is also known as cholestasis, neonatal intrahepatic, caused by citrin deficiency|neonatal intrahepatic cholestasis caused by citrin deficiency|citrullinemia, type ii, neonatal-onset, with or without failure to thrive and dyslipidemia|niccd

Related symptoms:

  • Global developmental delay
  • Growth delay
  • Failure to thrive
  • Anemia
  • Hepatomegaly


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about NEONATAL INTRAHEPATIC CHOLESTASIS DUE TO CITRIN 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

Fructose-1,6-biphosphatase (FBP) deficiency is a disorder of fructose metabolism (see this term) characterized by recurrent episodes of fasting hypoglycemia with lactic acidosis, that may be life-threatening in neonates and infants.

FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY Is also known as fructose-1,6-diphosphatase deficiency|fbpase deficiency

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Muscular hypotonia
  • Hepatomegaly
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY

HyHyperinsulism due to UCP2 deficiency (HIUCP2) is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI, see this term) characterized by hypoglycemic episodes from the neonatal period, a good clinical response to diazoxide and a probable transient nature of the disease with spontaneous resolution.

HYPERINSULINISM DUE TO UCP2 DEFICIENCY Is also known as hyperinsulinemic hypoglycemia due to ucp2 deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Cognitive impairment
  • Hepatomegaly
  • Vomiting


SOURCES: ORPHANET MENDELIAN

More info about HYPERINSULINISM DUE TO UCP2 DEFICIENCY

GLYCOGEN STORAGE DISEASE IXB; GSD9B Is also known as gsd ixb|glycogenosis of liver and muscle, autosomal recessive|phosphorylase kinase deficiency of liver and muscle, autosomal recessive

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE IXB; GSD9B

Top 5 symptoms//phenotypes associated to Hepatomegaly and Hypoglycemia

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Failure to thrive Common - Between 50% and 80% cases
Ketosis Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Vomiting Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Decreased liver function Hypertriglyceridemia Hypercholesterolemia Seizures Elevated hepatic transaminase Intellectual disability Growth delay Cirrhosis Neonatal hypoglycemia Hyperlipidemia Acidosis Generalized hypotonia Fatigue Diarrhea Lactic acidosis Coma Recurrent hypoglycemia

Rare Symptoms - Less than 30% cases

Large for gestational age Hepatic fibrosis Increased hepatic glycogen content Abdominal distention Tachycardia Muscle weakness Drowsiness Irritability Metabolic acidosis Lethargy Motor delay Hyperbilirubinemia Hypoketotic hypoglycemia Encephalopathy Hyperuricemia Hepatic steatosis Muscular hypotonia Increased urinary glycerol Cognitive impairment Apnea Impaired gluconeogenesis Neonatal hyperbilirubinemia Severe lactic acidosis Hyperventilation Tachypnea Pallor Dyspnea Fever Primary adrenal insufficiency Hyperhidrosis Headache Progressive neurologic deterioration Scarring Exercise-induced myalgia Myoglobinuria Exercise intolerance Muscle stiffness Progressive muscle weakness Muscle cramps Nausea Nausea and vomiting Myalgia Hyperinsulinemia Hypergonadotropic hypogonadism Skeletal muscle atrophy Pain Vitamin B1 deficiency Abnormality of fatty-acid metabolism Pancreatic islet-cell hyperplasia Secondary growth hormone deficiency Hyperinsulinemic hypoglycemia Agitation Congenital sensorineural hearing impairment Hepatitis Pancytopenia Glycosuria Hypoglycemic seizures Portal fibrosis Bile duct proliferation Fasting hypoglycemia Splenomegaly Hypouricemia Hyperphosphaturia Rickets Jaundice Aminoaciduria Nephrocalcinosis Proteinuria Diabetes mellitus Hypoglycemic coma Respiratory arrest Abnormality of metabolism/homeostasis Postnatal growth retardation Anemia Abnormality of the nervous system Increased serum lactate Giant cell hepatitis Hepatic failure Hypogonadism Renal insufficiency Sensorineural hearing impairment Hearing impairment Elevated plasma citrulline Hypermethioninemia Hypergalactosemia Abnormality of the liver Decreased HDL cholesterol concentration Hypoproteinemia Intrahepatic cholestasis Abnormality of lipid metabolism Prolonged neonatal jaundice Cholestasis Hemolytic anemia Small for gestational age Increased muscle glycogen content


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