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Carnitine deficiency is found in about 50% of cases. [18] Over 90% of those diagnosed with 3-Methylcrotonyl-CoA carboxylase deficiency by newborn screening remain asymptomatic. The medical abnormalities that present in the few who do show symptoms are not always clearly related to 3-Methylcrotonyl-CoA carboxylase deficiency. [5]
Of the 24 children produced in these sibships, 7 were affected with what they (the researchers) a thought to be a novel ectodermal dysplasia syndrome, said children had nail dystrophy, peg-shaped incisors, erythematous facial lesions, hyperhidrotic palms and soles with thickened skin, dry sparse hair, and eyebrow thinning.
Carnitine deficiency has been extensively studied, although most commonly as a secondary finding to other metabolic conditions. [5] The first case of SPCD was reported in the 1980s, in a child with fasting hypoketotic hypoglycemia that resolved after treatment with carnitine supplementation.
Signs and symptoms of this disorder include low levels of ketones (hypoketosis) and low blood sugar (hypoglycemia). Together these signs are called hypoketotic hypoglycemia. People with this disorder typically also have an enlarged liver (hepatomegaly), muscle weakness, and elevated levels of carnitine in the blood. [2]
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2,4-Dienoyl-CoA reductase deficiency was initially described in 1990 based on a single case of a black female who presented with persistent hypotonia. Laboratory investigations revealed elevated lysine, low levels of carnitine and an abnormal acylcarnitine profile in urine and blood.
Onychomycosis, also known as tinea unguium, [4] is a fungal infection of the nail. [2] Symptoms may include white or yellow nail discoloration, thickening of the nail, and separation of the nail from the nail bed. [2] Fingernails may be affected, but it is more common for toenails. [3] Complications may include cellulitis of the lower leg. [3]
Nail clubbing, also known as digital clubbing or clubbing, is a deformity of the finger or toe nails associated with a number of diseases, anomalies and defects, ...