Symptoms of amyloidosis depend on the organs it affects. The wide range of symptoms often makes amyloidosis difficult to diagnose. [encyclopedia.com]

Clinical manifestations include lactic acidosis, seizures, respiratory distress, marked psychomotor delay, periodic hypoglycemia, and hypotonia. The clinical course may be similar to leigh disease. [icd10data.com]

distress Juvenile and adult form skeletal myopathy delayed-gross motor development limb-girdle weakness respiratory issues Enzyme replacement therapy alglucosidase alfa Cori disease (type III) Glycogen debranching enzyme Autosomal recessive Most cases [medbullets.com]

Diagnosis [ edit ] Several different problems may lead to the diagnosis, usually by two years of age: seizures or other manifestations of severe fasting hypoglycemia hepatomegaly with abdominal protuberance hyperventilation and apparent respiratory distress [en.wikipedia.org]

Many pediatric cases present with impaired consciousness, repeated seizures, severe anemia, respiratory distress, or shock. [ahcmedia.com]

Increased acidity in the blood can lead to vomiting, abdominal pain, extreme tiredness (fatigue), muscle weakness, and difficulty breathing. In some cases, episodes of lactic acidosis are triggered by an illness or periods without food (fasting). [icdlist.com]

It presents with hypoglycemia, failure to thrive, metabolic acidosis, muscle weakness, and hepatomegaly. [icd10data.com]

weakness In type IIb, intellectual disability Treatment: For symptomatic patients, enzyme replacement (alglucosidase alfa) For cardiomyopathy, heart transplantation Type IIa Lysosomal acid α -glucosidase GAA (17q25)* Type IIb (Danon) Lysosomal membrane [msdmanuals.com]

In patients with disease also involving muscle (type IIIa), muscle weakness, though minimal during childhood, can become predominant in adults; these patients show signs of neuromuscular involvement, with slowly progressive weakness and distal muscle [ommbid.mhmedical.com]

Other disorders : PEP carboxykinase deficiency is very rare; begins in neonatal period and involves FTT, microcephaly, developmental delay, seizures, hepatomegaly, renal tubular acidosis, cardiomyopathy and muscle weakness (van den Berghe, 1996). [pedclerk.bsd.uchicago.edu]

As a consequence, glucocorticoids are widely used as drugs to treat inflammatory conditions such as arthritis or dermatitis, and as adjunction therapy for conditions such as autoimmune diseases. [vivo.colostate.edu]

Fortunately, the urine discoloration is not detrimental to people with this IEM; however, alkaptonurics do tend to develop arthritis later in life. PKU is a serious IEM caused by a liver enzyme deficiency. [encyclopedia.com]

The buildup of uric acid in the joints and tissues causes arthritis and inflammation. gp100 A tumor-specific antigen used in the development of cancer vaccines. [cancer.gov]

retardation-progressive brain atrophy-basal ganglia disease syndrome Intermediate maple syrup urine disease Intermediate severe Salla disease Intermittent maple syrup urine disease Isobutyryl-CoA dehydrogenase deficiency Isolated ATP synthase deficiency [se-atlas.de]

In the most severe form, pyruvate carboxylase deficiency results in progressive neurologic symptoms, starting in the neonatal or early infantile period, including developmental delay, poor muscle tone, abnormal eye movements, and seizures. [emedicine.medscape.com]

Signs and symptoms appear early in life and include failure to thrive, mental and growth retardation, motor disturbances, seizures, and lactic acidosis. [icd10data.com]

Blood in the stool may be a sign of colorectal cancer or other problems, such as polyps, ulcers, or hemorrhoids. [cancer.gov]