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]

• 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]

  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]

  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]

• 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]

• Skin Lesion

  The clinical manifestations include skin lesions and hematologic and orthopedic complications because of bone marrow failure and bony destruction with infiltration of PVP storage histiocytes. [ncbi.nlm.nih.gov]

  These skin lesions may be flat or raised, and some people may not have them at all. Gaucher Disease Types I, II, and III: Gaucher disease is the most common type of lysosomal storage disorder. [rarediseases.org]

• 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]

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]

• Dyslipidemia

  Moreover, even in GSD I patients with apparent dyslipidemia, no premature atherosclerosis was shown ( 22 ). [cjasn.asnjournals.org]

  Dyslipidemia with low HDL, elevated LDL and elevated triglycerides is present in the majority of patients, and 10% have coronary artery disease or cardiac valve disease (72). Osteopenia and osteoporosis are common in adults. [ncbi.nlm.nih.gov]

However, due to the risks and exclusion criteria of this treatment additional therapies are required. [ncbi.nlm.nih.gov]

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]

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]

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]

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 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]

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

Krabbe disease Tay-Sachs disease Etiology: autosomal recessive inherited disease [4] Epidemiology: : more common in the Ashkenazi Jewish population Pathophysiology: hexosaminidase A deficiency intracellular accumulation of GM2 ganglioside progressive [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]

Krabbe disease Tay-Sachs disease Etiology: autosomal recessive inherited disease [4] Epidemiology: : more common in the Ashkenazi Jewish population Pathophysiology: hexosaminidase A deficiency intracellular accumulation of GM2 ganglioside progressive [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 disease [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]

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

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]