Methylmalonic aciduria and homocystinuria

Synonyms

Methylmalonic acidemia and homocystinemia; Methylmalonic acidemia with homocystinuria

Modes of inheritance

Autosomal recessive inheritance

Autosomal recessive inheritance

MedGen UID: 141025, Concept ID: C0441748, Intellectual Product

Source: Orphanet

A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).

(Orphanet)
X-linked recessive inheritance

X-linked recessive inheritance

MedGen UID: 375779, Concept ID: C1845977, Finding

Source: Orphanet

A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.

(Orphanet)