Abstract Neutral lipid storage disease with myopathy (NLSDM) presents with skeletal muscle myopathy and severe dilated cardiomyopathy in nearly 40% of cases. [ncbi.nlm.nih.gov]

She presented to us with a history of several days of polyuria, polydipsia, and loss of weight. [casesjournal.biomedcentral.com]

The cardiac enlargement that is often present in the infantile form is seldom seen in the childhood form. [rarediseases.org]

Patients with either phosphorylase or phosphorylase kinase deficiencies present in early childhood with hepatomegaly and growth retardation. Hypoglycemia and hyperlipidemia are variable and, if present, usually mild. [ommbid.mhmedical.com]

• Turkish

  Herein, we report on the first Turkish family carrying the mutation p.Arg375Trp (fibrinogen Aguadilla) in the γ-chain of the fibrinogen (FGG) gene. Clinical, laboratory and histopathological findings of the patient were documented. [ncbi.nlm.nih.gov]

  TPP1 ) Type 3 Batten–Spielmeyer–Vogt disease / juvenile NCL ( CLN3 ) Type 4 Kufs disease / adult NCL ( CLN4 ) Type 5 Finnish Variant / late infantile ( CLN5 ) Type 6 Late infantile variant ( CLN6 ) Type 7 CLN7 Type 8 Northern epilepsy ( CLN8 ) Type 8 Turkish [en.m.wikipedia.org]

  CLN2/LINCL TPP1) Type 3 Batten–Spielmeyer–Vogt disease / juvenile NCL (CLN3) Type 4 Kufs disease / adult NCL (CLN4) Type 5 Finnish Variant / late infantile (CLN5) Type 6 Late infantile variant (CLN6) Type 7 CLN7 Type 8 Northern epilepsy (CLN8) Type 8 Turkish [en.wikipedia.org]

• Intravenous Administration

  Any illness or condition that reduces the amount of food intake requires supple-mental injections of simple sugars, such as dextrose, or intravenous administration of glucose. [encyclopedia.com]

• Short Stature in Children

  Often, Cori's disease causes poor growth with a short stature in children. If blood glucose levels are appropriately maintained, the attainment of normal growth is possible. [encyclopedia.com]

• Hepatosplenomegaly

  Airway obstruction Failure to thrive Dysostosis multiplex Inguinal hernia Hepatosplenomegaly Corneal clouding Hepatosplenomegaly Carpal tunnel syndrome Aggressive behavior Hyperactivity No corneal clouding Diagnosis Increased urinary levels of dermatan [amboss.com]

  Here we describe two different clinical presentations of this disease: one case with a clear phenotype of familial hypercholesterolaemia and one case with hepatosplenomegaly from childhood onwards. [ncbi.nlm.nih.gov]

  Case report A 16 month old boy presented with hepatosplenomegaly and hypotonia. 8 The combination of hepatosplenomegaly, disturbed muscle function, and the histological finding of cirrhosis and glycogen storage in the liver led to a diagnosis of GSD IV [adc.bmj.com]

• Spastic Paraplegia

  Mutations in AP5Z1, encoding a subunit of the AP-5 complex, have been reported to cause hereditary spastic paraplegia (HSP), although their impact at the cellular level has not been assessed. [ncbi.nlm.nih.gov]

  paraplegia Familial dystonia, paroxysmal dystonia Familial ataxias Familial Alzheimer's disease Charcot Marie Tooth disease Wilson’s disease Mitochondrial encephalomyopathies Genetic Epilepsy Syndromes We are currently involved in enzyme replacement [stjosephshealth.org]

• Loss of Gait

  If damage to the nervous system occurs in addition to muscular deficits, there may be decreased reflexes, sensory loss, and gait disturbances. Mild mental impairment may occur. [encyclopedia.com]

The present review focuses on current available evidence that supports the incremental value of STE in the diagnostic and prognostic workup of LVH. [ncbi.nlm.nih.gov]

The coexistence of hepatomegaly and hypoglycemia should prompt a workup that includes measurement of BG, lactate, uric acid, and hepatic profile including liver function studies, CK, plasma total and free carnitine, acylcarnitine profile, urinalysis, [nature.com]

Treatment of GSDs that Affect the Muscles These general treatment guidelines apply to people with types V and VII. Your doctor will develop a treatment regimen based on your specific symptoms. [mda.org.au]

The goal of treatment is to maintain normal blood glucose levels. [chp.edu]

Prognosis and treatment of glycogen storage diseases vary by type, but treatment typically includes dietary supplementation with cornstarch to provide a sustained source of glucose for the hepatic forms of GSD and exercise avoidance for the muscle forms [merckmanuals.com]

A variety of treatment regimes including chaperone therapies, enzyme replacement therapy, and substrate inhibition therapy are currently under development for many LSDs. [genetics.emory.edu]

Prognosis Prognosis is unfavorable for patients with perinatal onset and classic forms who do not undergo liver transplantation. Long-term prognosis for others depends on the extent, severity, and progression of the condition. [orpha.net]

Prognosis The prognosis of GSD is highly varied. Overall, the long-term prognosis depends on the extent, severity, and progression of the disease. GSDs are generally multisystem diseases, with many potential complications. [encyclopedia.com]

In patients with LVH, subclinical left ventricular (LV) dysfunction despite normal ejection fraction (EF) may be present before the onset of symptoms, which portends a dismal prognosis. [ncbi.nlm.nih.gov]

Prognosis is good; adult patients have normal stature and minimal hepatomegaly. [ommbid.mhmedical.com]

This case illustrates a rare etiology of storage disease that causes abnormal liver function tests. [ncbi.nlm.nih.gov]

There are three main classes, which include: [1] Gaucher disease Etiology: autosomal recessive inherited disease [2] Epidemiology Pathophysiology: deficiency of β-glucocerebrosidase → accumulation of glucocerebroside in the brain, liver, spleen, bone [amboss.com]

Etiology NLSDI/Dorfman-Chanarin disease is caused by mutations in the ABHD5 gene (3p21), NLSDM by mutations in the PNPLA2/ATGL gene (localized to 11p15.5). [orpha.net]

This report expands the epidemiology of FSD and demonstrates idiosyncrasy in response to oral carbamazepine and/or ursodeoxycholic acid in FSD. [ncbi.nlm.nih.gov]

There are three main classes, which include: [1] Gaucher disease Etiology: autosomal recessive inherited disease [2] Epidemiology Pathophysiology: deficiency of β-glucocerebrosidase → accumulation of glucocerebroside in the brain, liver, spleen, bone [amboss.com]

Summary Epidemiology The group of diseases is very rare and the prevalence is unknown (around 50 cases have been reported in medical literature, of which 3 had NLSDM) because of the vagueness of the descriptions. [orpha.net]

GSD I is typically treated with frequent small meals of carbohydrates and cornstarch to prevent low blood sugar, while other treatments may include allopurinol and human granulocyte colony stimulating factor. [21] Epidemiology [ edit ] Overall, according [en.wikipedia.org]

Although the exact pathophysiology is not exactly the same, it is astounding how many similar pathways are altered in all of these diseases. [ncbi.nlm.nih.gov]

Overview Lysosomal storage diseases Disease Inheritance Pathophysiology Main findings Sphingolipidoses Gaucher disease Autosomal recessive ↓ β-Glucocerebrosidase → ↑ glucocerebroside Hepatosplenomegaly Bone crises Blood cytopenias Gaucher cells Krabbe [amboss.com]

Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test Glycogen storage diseases (GSDs) are a group of inherited metabolic conditions caused by deficiency of enzymes responsible for [mayomedicallaboratories.com]

This may exacerbate subtle energy deficiency which has been discussed to play a pathophysiological role in glycogenoses [ 21 ],[ 22 ]. [ojrd.biomedcentral.com]

Manifestations Although single gene defects typically result in substrate accumulation, the precise underlying pathophysiologic mechanisms that lead to clinical symptoms are not entirely clear. [emedicine.medscape.com]

Conclusions: For GSD-Ia, hyperuricemia and pyelonephritis should be treated to prevent nephrocalcinosis and additional renal damage. For GSD-Ib, granulocyte-colony-stimulating factor may prevent bacterial infections. [annals.org]

There is no way to prevent GSDs. [mda.org.au]

A drug commonly prescribed to prevent transplant rejection -- rapamycin -- stimulated autophagy and improved liver size and function in animal models. [sciencedaily.com]

High-molecular-weight PVP polymers are prevented from renal excretion and are retained in the reticuloendothelial system. [ncbi.nlm.nih.gov]