Most patients experience muscle symptoms, such as weakness and cramps, although certain GSDs manifest as specific syndromes, such as hypoglycemic seizures or cardiomegaly.
[emedicine.medscape.com]
seizures recurrent infections massive hepatomegaly recurrent hypoglycemia hyperuricemia hypertriglyceridemia neutropenia fasting lactacidemia acute myelogenous leukemia
[humpath.com]
Most patients experience muscle symptoms, such as weakness and cramps, although certain GSDs manifest as specific syndromes, such as hypoglycemic seizures or cardiomegaly.
[emedicine.com]
Fasting glucose is indicated as hypoglycemia is found in glycogen storage diseases and it may lead to hypoglycemic seizures.
[symptoma.com]
Synonym(s): hypoglycaemic. hypoglycemic pertaining to, characterized by, or producing hypoglycemia. hypoglycemic crisis profound weakness and seizures may be caused by very
[medical-dictionary.thefreedictionary.com]
The empirical carnitine supplementation may helpful for hypoketotic hypoglycemic seizures.
[e-sciencecentral.org]
The majority of the neurological complications come from the effects of hypoketotic hypoglycemic encephalopathy (e.g. seizures).
[emilytam.com]
Parents of infants should be particularly careful and monitor the child's diet to avoid hypoglycemic seizures.
[counsyl.com]
The hypoglycemic seizures that occur in the first decade of life may lead to immediate morbidity.
[symptoma.com]
Most patients experience muscle symptoms, such as weakness and cramps, although certain GSDs manifest as specific syndromes, such as hypoglycemic seizures or cardiomegaly.
[emedicine.medscape.com]
Most patients experience muscle symptoms such as weakness and cramps, although certain GSDs manifest as specific syndromes, such as hypoglycemic seizures or cardiomegaly.
[emedicine.medscape.com]
Symptoms include muscle cramping and weakness, although some types of GSD cause more severe symptoms of hypoglycemic seizure and enlarged heart.
[mazornet.com]
Most patients experience muscle symptoms, such as weakness and cramps, although certain GSDs manifest as specific syndromes, such as hypoglycemic seizures or cardiomegaly.
[emedicine.com]
Most patients experience muscle symptoms, such as weakness and cramps, although certain GSDs manifest as specific syndromes, such as hypoglycemic seizures or cardiomegaly.
[emedicine.com]
More commonly though, infants of 3–4 months of age will manifest with hepatomegaly and hypoglycemic seizures.
[themedicalbiochemistrypage.org]
Most patients experience muscle symptoms, such as weakness and cramps, although certain GSDs manifest as specific syndromes, such as hypoglycemic seizures or cardiomegaly.
[emedicine.medscape.com]
Other features include lactic acidosis, hyperlipidemia, hyperuricemia, and hypoglycemic seizures.
[xpertdox.com]
It is caused by mutations in AAAS gene which encodes a protein called ALADIN. 8-year-old boy who presented with hypoglycemic seizures, dysphagia, dry eyes and hyperpigmentation
[ncbi.nlm.nih.gov]
Results Our cohort consisted mostly of children and displayed a wide phenotypic variability in the presenting symptoms ranging from hypoglycemic seizures at the severe end
[ncbi.nlm.nih.gov]
Symptoms and Signs Most cases present classic symptoms of primary adrenal sufficiency, which includes hypoglycemic seizures and shock.
[medigest.uk]
seizures. juvenile hypoglycemia occurs in young puppies, mainly of toy breeds, causing weakness, muscle tremors, ataxia and seizures.
[medical-dictionary.thefreedictionary.com]
Severe hypoglycemia can also lead to seizures and coma, and prolonged hypoglycemia can lead to brain damage.
[medbroadcast.com]
[…] sugar causes convulsions and final coma. hunting dog hypoglycemia a stress-related syndrome seen in dogs that are fasted before a hunt, later experiencing exhaustion and hypoglycemic
[medical-dictionary.thefreedictionary.com]
seizures Polyphagia Growth abnormality Obesity IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information
[ncbi.nlm.nih.gov]
[…] stimulation test Abnormality of the integument Red hair Abnormality of the nervous system Congenital isolated adrenocorticotropic hormone deficiency Gonadotropin deficiency Hypoglycemic
[ncbi.nlm.nih.gov]
Hypoglycemic seizure was the most commonly presenting symptom and was seen in seven cases.
[latunisiemedicale.com]
As reported in others series, macrosomia at birth was frequently noted and hypoglycemic seizure was the most presenting symptom although more subtle symptoms may be present
[latunisiemedicale.com]
Patients may present with hyperpigmentation, recurrent infections, failure to thrive, hypoglycemic seizures, and coma in infancy or early childhood.
[ncbi.nlm.nih.gov]
One sibling was well, whereas the second had cerebral palsy secondary to hypoglycemic seizures.
[ncbi.nlm.nih.gov]
seizures and failure to thrive.
[orpha.net]
3 Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Diabetes mellitus OMIM:602485 Hyperinsulinemic Hypoglycemia, Familial, 4 Hypoglycemic seizures, Hyperinsulinemic
[mousephenotype.org]
Hyperinsulinemic Hypoglycemia, Familial, 5 Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609968 Hyperinsulinemic Hypoglycemia, Familial
[mousephenotype.org]
OMIM:300888 Pituitary Hormone Deficiency, Combined, 2 Adrenal insufficiency, Hypothyroidism, Neonatal hypoglycemia, Hypoglycemic seizures, Panhypopitui...
[mousephenotype.org]
[…] hypoglycemia, low insulin levels, low serum levels of ketone bodies and branched-chain amino acids, left-sided hemihypertrophy, neonatal macrosomia, reduced consciousness and hypoglycemic
[uniprot.org]
seizures ; Hypogonadism ; Hypothyroidism ; Neonatal hypoglycemia ; Panhypopituitarism ; Prolactin deficiency ; Seizures ; Short stature Associated Genes PROP1 Mouse Orthologs
[mousephenotype.org]
PITUITARY DWARFISM III Classification endocrine, genetic, gynaecological and obstetric, infertility Phenotypes Adrenal insufficiency ; Autosomal recessive inheritance ; Hypoglycemic
[mousephenotype.org]
Ketotic hypoglycemia, Hypoglycemic seizures, Neonatal hypoglycemia, Fasting hypoglycemia, Excessi...
[mousephenotype.org]
To Glucose-6-Phosphatase Deficiency Type Ib Hypoglycemic seizures, Hypoglycemia, Hyperlipidemia, Osteopenia, Hypercholesterolemia, Chronic ne...
[mousephenotype.org]
ORPHA:64753 Pituitary Hormone Deficiency, Combined, 2 Adrenal insufficiency, Hypoglycemic seizures, Neonatal hypoglycemia, Hypothyroidism, Panhypopitui...
[mousephenotype.org]
Recent reports suggest that patients with glycogen-storage disease type 0 present with symptoms that range from asymptomatic hyperglycemia to recurrent hypoglycemic seizures
[emedicine.com]
Mild hypoglycemic episodes may be clinically unrecognized, or they may cause symptoms such as drowsiness, sweating, lack of attention, or pallor.
[en.wikipedia.org]
Uncoordinated eye movements, disorientation, seizures, and coma may accompany severe episodes. [2] Glycogen-storage disease type 0 affects only the liver.
[en.wikipedia.org]
Recent reports suggest that patients with glycogen-storage disease type 0 present with symptoms that range from asymptomatic hyperglycemia to recurrent hypoglycemic seizures
[emedicine.medscape.com]
Most patients experience muscle symptoms such as weakness and cramps, although certain GSDs manifest as specific syndromes, such as hypoglycemic seizures or cardiomegaly.
[humpath.com]
Mild hypoglycemic episodes may be clinically unrecognized, or they may cause symptoms such as drowsiness, sweating, lack of attention, or pallor.
[en.wikipedia.org]
Neuromuscular symptoms, such as seizures, muscle weakness, hypotonia, myoclonus, and muscle pain, and strokes or coma may suggest acute energy deficit in the brain (eg, hypoglycemic
[chumy.wordpress.com]
More commonly though, infants of 3–4 months of age will manifest with hepatomegaly and hypoglycemic seizures.
[themedicalbiochemistrypage.org]
seizures in GSD type I, strokes in mitochondrial oxidative phosphorylation defects) or muscle (eg, muscle weakness in muscle forms of GSD).
[chumy.wordpress.com]
seizures 0002173 Prolonged neonatal jaundice Prolonged yellowing of skin in newborn 0006579 5%-29% of people have these symptoms Hepatitis Liver inflammation 0012115 Percent
[rarediseases.info.nih.gov]
Hypoglycemic seizures secondary to glucocorticoid deficiency are a frequent complication of this disorder when inadequate treatment is provided.
[emedicine.medscape.com]
0000835 Fatigue Tired Tiredness [ more ] 0012378 Hyponatremia Low blood sodium levels 0002902 Hypotension Low blood pressure 0002615 30%-79% of people have these symptoms Hypoglycemic
[rarediseases.info.nih.gov]
The first patient presented at the 4 years of age with recurrent hypoglycemic seizures.
[degruyter.com]
More commonly though, infants of 3–4 months of age will manifest with hepatomegaly and hypoglycemic seizures.
[themedicalbiochemistrypage.org]
The most frequent initial presentation of Allgrove’s syndrome is a hypoglycemic seizure secondary to glucocorticoid deficiency.
[jpss.eu]
History and examination The subject was diagnosed with adrenocortical insufficiency with elevated plasma ACTH at age 1 after a hypoglycemic seizure and was subsequently pharmacologically
[bmcophthalmol.biomedcentral.com]
One of the most frequent initial presentations of patients with Allgrove’s syndrome is a hypoglycemic seizure secondary to glucocorticoid deficiency.
[jpss.eu]
seizures Dicarboxylic aciduria Fasting hyperinsulinemia Skin tags Dry skin Abnormality of the coagulation cascade Slender long bone Abnormal facial shape Pierre-Robin sequence
[mendelian.co]
[…] hypoglycemia Hyperinsulinemic hypoglycemia Elevated circulating luteinizing hormone level Decreased plasma carnitine Hypoketotic hypoglycemia Prolonged prothrombin time Hypoglycemic
[mendelian.co]
seizures as well as the size of the liver.
[ncbi.nlm.nih.gov]
If the blood sugar is very low, some individuals may have seizures (hypoglycemic seizures).
[agsdus.org]
[…] with GSD III, according to individual fasting tolerance test was very beneficial and resulted in improvement of the linear growth velocity and reduction in the frequency of hypoglycemic
[ncbi.nlm.nih.gov]
seizures, unconsciousness, coma, and death if left untreated.
[jdrf.org]
Repeated hypoglycemic seizures in young children may also cause structural brain changes [ 41 ].
[jdmdonline.biomedcentral.com]
focal neurological signs Somnolence → obtundation → stupor → coma Frequent hypoglycemic episodes in diabetics can lead to decreased awareness of the symptoms.
[amboss.com]
More commonly though, infants of 3–4 months of age will manifest with hepatomegaly and hypoglycemic seizures.
[themedicalbiochemistrypage.org]
Otherwise, organs begin to malfunction (for example, the hypoglycemic brain may develop seizures ).
[emedicinehealth.com]
Although mild hypoglycemia for much of the day may go unsuspected, the metabolic adaptations described above make severe hypoglycemic episodes, with unconsciousness or seizure
[en.wikipedia.org]
seizures, unconsciousness, coma, and death if left untreated.
[jdrf.org]
Hypoglycemic encephalopathy, comprising of delirium, coma, seizures, and a "stroke-like illness" was described in the 1960s.
[medlink.com]
Presentation History Many cases of Allgrove (AAA) syndrome present with classic symptoms of primary adrenal insufficiency, including hypoglycemic seizures and shock.
[emedicine.medscape.com]
seizures and failure to thrive.
[orpha.net]
Clinical description FGD usually presents in infancy or early childhood with hyperpigmentation of the skin and gums (present at birth or that develops over time), hypoglycemic
[orpha.net]
