In some cases, trichorrhexis nodosa may be caused by an underlying disorder such as argininosuccinic aciduria, Menkes'kinky hair syndrome, Netherton's syndrome, hypothyroidism, or trichothiodystrophy.
42.
If the patient has inborn errors in the methyltransfer pathway ( cobalamin C disease, combined methylmalonic aciduria and homocystinuria ), treatment with intravenous, intramuscular hydroxocobalamin or transdermal B 12 is needed.
43.
An infant with argininosuccinic aciduria may seem lethargic or be unwilling to eat, have poorly controlled breathing rate or body temperature, experience seizures or unusual body movements, or go into a coma.
44.
There is biochemical evidence that shows rises in ammonia can inhibit glutaminase and therefore limit the rate of synthesis of neurotransmitters such as glutamate, which can explain the developmental delay in argininosuccinic aciduria patients.
45.
It has been reported that PHGDH can also catalyze the conversion of 2-hydroxyglutaric aciduria in humans, although there is debate as to whether or not this catalysis is shared by human PHGDH.
46.
"' Alpha-aminoadipic and alpha-ketoadipic aciduria "'is an autosomal recessive metabolic disorder characterized by an increased urinary excretion of alpha-ketoadipic acid and alpha-aminoadipic acid.
47.
Other less common conditions which appear in the breed include hydroxyglutaric aciduria, which is where elevated levels of Alpha-Hydroxyglutaric acid are in the dog's urine, blood plasma, and spinal fluid.
48.
Costeff optic atrophy syndrome is another name for 3-methylglutaconic aciduria type III . This disorder is characterized mainly by the degeneration of the optic nerves, which carry information from the eyes to the brain.
49.
A deficiency of this enzyme is responsible for an inherited disorder of metabolism, Methylmalonyl-CoA mutase deficiency, which is one of the causes of methylmalonic acidemia ( also referred to as methylmalonic aciduria or MMA ).
50.
As all types of 3-Methylglutaconic aciduria are known to be genetic diseases and show a recessive pattern it is likely that congenital marriages where both partners are carriers increase the chance to have a baby with the condition.
