Microcephaly, Amish type
Definition:
Microcephaly, Amish type (MCPHA) is a lethal, autosomal recessive condition characterized by severe congenital microcephaly, elevated levels of alpha-ketoglutarate in the urine, and premature death. This disorder has been observed in Old Order Amish families. Patients have a homozygous point mutation in SLC25A19 that results in loss of transport activity.
References:
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[1]. Ferdinando Palmieri, et al. The mitochondrial transporter family (SLC25): physiological and pathological implications. Pflugers Arch. 2004 Feb;447(5):689-709. [Content Brief]
[2]. Marjorie J Rosenberg, et al. Mutant deoxynucleotide carrier is associated with congenital microcephaly. Nat Genet. 2002 Sep;32(1):175-9. [Content Brief]
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