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]

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]

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]

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]

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]