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Items: 7

1.

Glutaric acidemia IIC

MedGen UID:
479786
Concept ID:
C3278156
Disease or Syndrome
2.

Glutaric acidemia IIB

MedGen UID:
479785
Concept ID:
C3278155
Disease or Syndrome
3.

Glutaric acidemia IIA

MedGen UID:
479784
Concept ID:
C3278154
Disease or Syndrome
4.

Glutaric Aciduria IIA

MedGen UID:
344726
Concept ID:
C1856401
Disease or Syndrome
5.

Glutaric Aciduria IIC

MedGen UID:
341544
Concept ID:
C1856405
Disease or Syndrome
6.

Glutaric Aciduria IIB

MedGen UID:
341543
Concept ID:
C1856403
Disease or Syndrome
7.

Glutaric aciduria, type 2

Glutaric aciduria II (GA II) is an autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism. It differs from GA I (231670) in that multiple acyl-CoA dehydrogenase deficiencies result in large excretion not only of glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. GA II results from deficiency of any 1 of 3 molecules: the alpha (ETFA) and beta (ETFB) subunits of electron transfer flavoprotein, and electron transfer flavoprotein dehydrogenase (ETFDH). The clinical picture of GA II due to the different defects appears to be indistinguishable; each defect can lead to a range of mild or severe cases, depending presumably on the location and nature of the intragenic lesion, i.e., mutation, in each case (Goodman, 1993; Olsen et al., 2003). The heterogeneous clinical features of patients with MADD fall into 3 classes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal and are characterized by severe nonketotic hypoglycemia, metabolic acidosis, multisystem involvement, and excretion of large amounts of fatty acid- and amino acid-derived metabolites. Symptoms and age at presentation of late-onset MADD are highly variable and characterized by recurrent episodes of lethargy, vomiting, hypoglycemia, metabolic acidosis, and hepatomegaly often preceded by metabolic stress. Muscle involvement in the form of pain, weakness, and lipid storage myopathy also occurs. The organic aciduria in patients with the late-onset form of MADD is often intermittent and only evident during periods of illness or catabolic stress (summary by Frerman and Goodman, 2001). Importantly, riboflavin treatment has been shown to ameliorate the symptoms and metabolic profiles in many MADD patients, particularly those with type III, the late-onset and mildest form (Liang et al., 2009). [from GTR]

MedGen UID:
75696
Concept ID:
C0268596
Disease or Syndrome
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