Intellectual disability, and Hypoglycemia

Diseases related with Intellectual disability and Hypoglycemia

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

Top matches:

Related symptoms:

  • Intellectual disability
  • Hypoglycemia
  • Coma
  • Neonatal hypoglycemia
  • Hyperinsulinemic hypoglycemia


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 4; HHF4

Hyperinsulinism-hyperammonemia syndrome (HIHA) is a frequent form of diazoxide-sensitive diffuse hyperinsulinism (see this term), characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), asymptomatic hyperammonemia and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae. Epilepsy and cognitive deficit that are unrelated to hypoglycemia may also occur.

HYPERINSULINISM-HYPERAMMONEMIA SYNDROME Is also known as hyperinsulinism-hyperammonemia syndrome|hi/ha syndrome

Related symptoms:

  • Intellectual disability
  • Growth delay
  • Hypoglycemia
  • Hyperammonemia
  • Hyperglycemia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about HYPERINSULINISM-HYPERAMMONEMIA SYNDROME

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

Other less relevant matches:

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

Dicarboxylicaminoaciduria is characterised by infantile-onset hypoglycaemia and hyperprolinaemia associated, in certain cases, with intellectual deficit.

DICARBOXYLIC AMINOACIDURIA Is also known as glutamate-aspartate transport defect

Related symptoms:

  • Intellectual disability
  • Hypoglycemia
  • Nephrolithiasis
  • Aminoaciduria
  • Obsessive-compulsive behavior


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about DICARBOXYLIC AMINOACIDURIA

Hyperinsulism due to glucokinase deficiency (HIGCK) is a form of diazoxide-sensitive diffuse hyperinsulinism (see this term), caused by a lowered threshold for insulin release, characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae.

HYPERINSULINISM DUE TO GLUCOKINASE DEFICIENCY Is also known as hyperinsulinemic hypoglycemia due to glucokinase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Muscle weakness
  • Fatigue
  • Diabetes mellitus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HYPERINSULINISM DUE TO GLUCOKINASE DEFICIENCY

Familial hyperinsulinism, also referred to as congenital hyperinsulinism, nesidioblastosis, or persistent hyperinsulinemic hypoglycemia of infancy (PPHI), is the most common cause of persistent hypoglycemia in infancy and is due to defective negative feedback regulation of insulin secretion by low glucose levels. Unless early and aggressive intervention is undertaken, brain damage from recurrent episodes of hypoglycemia may occur (Thornton et al., 1998). Genetic Heterogeneity of Hyperinsulinemic HypoglycemiaHHF2 (OMIM ) is caused by mutation in the KCNJ11 gene (OMIM ) on chromosome 11p15. HHF3 (OMIM ) is caused by mutation in the glucokinase gene (GCK ) on chromosome 7p13. HHF4 (OMIM ) is caused by mutation in the HADH gene (OMIM ) on chromosome 4q25. HHF5 (OMIM ) is caused by mutation in the insulin receptor gene (INSR ) on chromosome 19p13. HHF6 (OMIM ) is caused by mutation in the GLUD1 gene (OMIM ) on chromosome 10q23. HHF7 (OMIM ) is caused by mutation in the SLC16A1 (OMIM ) on chromosome 1p13. There is evidence of further genetic heterogeneity of HHF.

HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1; HHF1 Is also known as persistent hyperinsulinemic hypoglycemia of infancy|hyperinsulinism, congenital|hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia|hypoglycemia, hyperinsulinemic, of infancy|hyperinsulinism, familial, with pancreatic nesidioblastosis|phhi|

Related symptoms:

  • Intellectual disability
  • Neoplasm
  • Diabetes mellitus
  • Hypoglycemia
  • Coma


SOURCES: OMIM MENDELIAN

More info about HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1; HHF1

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Feeding difficulties
  • Respiratory distress


SOURCES: ORPHANET OMIM MENDELIAN

More info about KETOACIDOSIS DUE TO MONOCARBOXYLATE TRANSPORTER-1 DEFICIENCY

HYPOGLYCEMIA, LEUCINE-INDUCED; LIH Is also known as leucine-sensitive hypoglycemia of infancy

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Strabismus
  • Spasticity


SOURCES: OMIM MESH MENDELIAN

More info about HYPOGLYCEMIA, LEUCINE-INDUCED; LIH

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Strabismus


SOURCES: OMIM MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 36; COXPD36

Top 5 symptoms//phenotypes associated to Intellectual disability and Hypoglycemia

Symptoms // Phenotype % cases
Hyperinsulinemic hypoglycemia Uncommon - Between 30% and 50% cases
Hypoglycemic seizures Uncommon - Between 30% and 50% cases
Coma Uncommon - Between 30% and 50% cases
Hypoglycemic coma Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Growth delay

Rare Symptoms - Less than 30% cases

Hyperinsulinemia Diabetes mellitus Seizures Fasting hypoglycemia Strabismus Ketosis Hypercholesterolemia Hyperlipidemia Hypertriglyceridemia Type II diabetes mellitus Hyperglycemia Hepatomegaly Failure to thrive Short stature Neonatal hypoglycemia Hypoketotic hypoglycemia Hyperammonemia Fatigue Hyperreflexia Spasticity Vomiting Atrial septal defect Ataxia Ketonuria Ketoacidosis Dehydration Metabolic acidosis Acidosis Ketotic hypoglycemia Low-set ears Irritability Vertigo Drowsiness Generalized hypotonia Hearing impairment Sensorineural hearing impairment Feeding difficulties Delayed speech and language development Headache Upslanted palpebral fissure Poor speech Aciduria Exercise intolerance Respiratory distress Fasting hyperinsulinemia Microcephaly Hyperprolinemia Asymptomatic hyperammonemia Postnatal growth retardation Increased hepatic glycogen content Motor delay Elevated hepatic transaminase Decreased liver function Hyperuricemia Nephrolithiasis Aminoaciduria Obsessive-compulsive behavior Generalized aminoaciduria Muscle weakness Insulinoma Hand tremor Recurrent hypoglycemia Abnormality of the autonomic nervous system Abnormality of nervous system physiology Abnormal C-peptide level Neoplasm Syncope Large for gestational age Maternal diabetes Neoplasm of the endocrine system Abnormality of the pancreas Pancreatic islet-cell hyperplasia Abnormality of mitochondrial metabolism


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